Canonical Allele Identifier: CA370429643

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061712C>G , CM000670.2:g.18061712C>G	GRCh38
NC_000008.10:g.17919221C>G , CM000670.1:g.17919221C>G	GRCh37
NC_000008.9:g.17963501C>G	NCBI36
NG_008985.1:g.28287G>C
NG_008985.2:g.28287G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.677G>C MANE Select	NP_808592.2:p.Arg226Pro
ENST00000637790.2:c.677G>C MANE Select	ENSP00000490272.1:p.Arg226Pro
NM_001127505.1:c.659G>C	NP_001120977.1:p.Arg220Pro
NM_001127505.2:c.659G>C	NP_001120977.1:p.Arg220Pro
NM_001127505.3:c.659G>C	NP_001120977.1:p.Arg220Pro
NM_001363743.1:c.482G>C	NP_001350672.1:p.Arg161Pro
NM_001363743.2:c.482G>C	NP_001350672.1:p.Arg161Pro
NM_004315.4:c.725G>C	NP_004306.3:p.Arg242Pro
NM_004315.5:c.725G>C	NP_004306.3:p.Arg242Pro
NM_004315.6:c.725G>C	NP_004306.3:p.Arg242Pro
NM_177924.3:c.677G>C	NP_808592.2:p.Arg226Pro
NM_177924.4:c.677G>C	NP_808592.2:p.Arg226Pro
ENST00000262097.10:c.677G>C	ENSP00000262097.6:p.Arg226Pro
ENST00000314146.10:c.659G>C	ENSP00000326970.10:p.Arg220Pro
ENST00000381733.8:c.725G>C	ENSP00000371152.4:p.Arg242Pro
ENST00000381733.9:c.725G>C	ENSP00000371152.4:p.Arg242Pro
ENST00000517409.2:n.645G>C
ENST00000518746.1:n.494G>C
ENST00000518746.2:n.2136G>C
ENST00000519468.5:n.506G>C
ENST00000519545.6:n.694G>C
ENST00000520781.5:c.602G>C	ENSP00000427751.1:p.Arg201Pro
ENST00000520781.6:c.602G>C	ENSP00000427751.1:p.Arg201Pro
ENST00000521542.1:n.163G>C
ENST00000523593.5:n.530G>C
ENST00000635756.1:c.99G>C
ENST00000635944.1:c.*513G>C	ENSP00000490195.1:n.*513G>C
ENST00000635998.1:c.677G>C	ENSP00000490506.1:p.Arg226Pro
ENST00000636009.1:c.534G>C	ENSP00000489988.1:n.534G>C
ENST00000636033.1:c.*513G>C	ENSP00000489617.1:n.*513G>C
ENST00000636050.1:c.*520G>C	ENSP00000490562.1:n.*520G>C
ENST00000636128.1:c.383-254G>C	ENSP00000489789.1:n.383-254G>C
ENST00000636160.1:c.*569G>C	ENSP00000489651.1:n.*569G>C
ENST00000636171.1:c.620G>C	ENSP00000489761.1:p.Arg207Pro
ENST00000636455.1:c.725G>C	ENSP00000490502.1:p.Arg242Pro
ENST00000636494.1:c.*457G>C	ENSP00000490388.1:n.*457G>C
ENST00000636563.1:n.339G>C
ENST00000636577.1:c.617G>C	ENSP00000490027.1:p.Arg206Pro
ENST00000636691.1:c.482G>C	ENSP00000490725.1:p.Arg161Pro
ENST00000636701.1:c.*328G>C	ENSP00000489800.1:n.*328G>C
ENST00000636719.1:n.502G>C
ENST00000636815.1:c.594G>C
ENST00000636920.1:c.*513G>C	ENSP00000490437.1:n.*513G>C
ENST00000636997.1:c.590G>C	ENSP00000490093.1:p.Arg197Pro
ENST00000637013.1:c.*1045G>C	ENSP00000490596.1:n.*1045G>C
ENST00000637014.1:n.1084G>C
ENST00000637095.1:c.*457G>C	ENSP00000490415.1:n.*457G>C
ENST00000637244.1:c.*1195G>C	ENSP00000490188.1:n.*1195G>C
ENST00000637343.1:n.2114G>C
ENST00000637429.1:c.*889G>C	ENSP00000490522.1:n.*889G>C
ENST00000637484.1:c.*639G>C	ENSP00000490837.1:n.*639G>C
ENST00000637528.1:c.614G>C	ENSP00000490801.1:p.Arg205Pro
ENST00000637609.1:n.3398G>C
ENST00000637636.1:c.671G>C	ENSP00000490112.1:p.Arg224Pro
ENST00000637857.1:n.816G>C
ENST00000637922.1:c.482G>C	ENSP00000490071.1:p.Arg161Pro
ENST00000637991.1:c.650G>C	ENSP00000489901.1:p.Arg217Pro
ENST00000638028.1:n.894G>C
ENST00000638069.1:n.1271G>C
XM_005273504.2:c.611G>C	XP_005273561.1:p.Arg204Pro
XM_005273504.3:c.611G>C	XP_005273561.1:p.Arg204Pro