Canonical Allele Identifier: CA4650497

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057569G>A , CM000670.2:g.18057569G>A	GRCh38
NC_000008.10:g.17915078G>A , CM000670.1:g.17915078G>A	GRCh37
NC_000008.9:g.17959358G>A	NCBI36
NG_008985.1:g.32430C>T
NG_008985.2:g.32430C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.1153C>T MANE Select	NP_808592.2:p.Leu385=
ENST00000637790.2:c.1153C>T MANE Select	ENSP00000490272.1:p.Leu385=
NM_001127505.1:c.1135C>T	NP_001120977.1:p.Leu379=
NM_001127505.2:c.1135C>T	NP_001120977.1:p.Leu379=
NM_001127505.3:c.1135C>T	NP_001120977.1:p.Leu379=
NM_001363743.1:c.958C>T	NP_001350672.1:p.Leu320=
NM_001363743.2:c.958C>T	NP_001350672.1:p.Leu320=
NM_004315.4:c.1201C>T	NP_004306.3:p.Leu401=
NM_004315.5:c.1201C>T	NP_004306.3:p.Leu401=
NM_004315.6:c.1201C>T	NP_004306.3:p.Leu401=
NM_177924.3:c.1153C>T	NP_808592.2:p.Leu385=
NM_177924.4:c.1153C>T	NP_808592.2:p.Leu385=
ENST00000262097.10:c.1153C>T	ENSP00000262097.6:p.Leu385=
ENST00000314146.10:c.1135C>T	ENSP00000326970.10:p.Leu379=
ENST00000381733.8:c.1201C>T	ENSP00000371152.4:p.Leu401=
ENST00000381733.9:c.1201C>T	ENSP00000371152.4:p.Leu401=
ENST00000518746.2:n.2839C>T
ENST00000520781.5:c.1078C>T	ENSP00000427751.1:p.Leu360=
ENST00000520781.6:c.1078C>T	ENSP00000427751.1:p.Leu360=
ENST00000635756.1:c.566C>T
ENST00000635944.1:c.*989C>T	ENSP00000490195.1:n.*989C>T
ENST00000635998.1:c.1153C>T	ENSP00000490506.1:p.Leu385=
ENST00000636009.1:c.1010C>T	ENSP00000489988.1:n.1010C>T
ENST00000636033.1:c.*989C>T	ENSP00000489617.1:n.*989C>T
ENST00000636050.1:c.*996C>T	ENSP00000490562.1:n.*996C>T
ENST00000636128.1:c.832C>T	ENSP00000489789.1:p.Leu278=
ENST00000636160.1:c.*1045C>T	ENSP00000489651.1:n.*1045C>T
ENST00000636171.1:c.1096C>T	ENSP00000489761.1:p.Leu366=
ENST00000636455.1:c.*51C>T	ENSP00000490502.1:n.*51C>T
ENST00000636494.1:c.*933C>T	ENSP00000490388.1:n.*933C>T
ENST00000636563.1:n.815C>T
ENST00000636577.1:c.1093C>T	ENSP00000490027.1:p.Leu365=
ENST00000636691.1:c.958C>T	ENSP00000490725.1:p.Leu320=
ENST00000636701.1:c.*804C>T	ENSP00000489800.1:n.*804C>T
ENST00000636815.1:c.1070C>T
ENST00000636920.1:c.*989C>T	ENSP00000490437.1:n.*989C>T
ENST00000636997.1:c.1066C>T	ENSP00000490093.1:p.Leu356=
ENST00000637013.1:c.*1521C>T	ENSP00000490596.1:n.*1521C>T
ENST00000637014.1:n.1560C>T
ENST00000637095.1:c.*933C>T	ENSP00000490415.1:n.*933C>T
ENST00000637244.1:c.*1671C>T	ENSP00000490188.1:n.*1671C>T
ENST00000637343.1:n.2590C>T
ENST00000637429.1:c.*1365C>T	ENSP00000490522.1:n.*1365C>T
ENST00000637484.1:c.*1115C>T	ENSP00000490837.1:n.*1115C>T
ENST00000637528.1:c.1090C>T	ENSP00000490801.1:p.Leu364=
ENST00000637609.1:n.3874C>T
ENST00000637636.1:c.1147C>T	ENSP00000490112.1:p.Leu383=
ENST00000637752.1:n.1595C>T
ENST00000637857.1:n.1519C>T
ENST00000637922.1:c.958C>T	ENSP00000490071.1:p.Leu320=
ENST00000637991.1:c.1126C>T	ENSP00000489901.1:p.Leu376=
ENST00000638028.1:n.1370C>T
ENST00000638069.1:n.1974C>T
XM_005273504.2:c.1087C>T	XP_005273561.1:p.Leu363=
XM_005273504.3:c.1087C>T	XP_005273561.1:p.Leu363=