Canonical Allele Identifier: CA370428191

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059656G>A , CM000670.2:g.18059656G>A	GRCh38
NC_000008.10:g.17917165G>A , CM000670.1:g.17917165G>A	GRCh37
NC_000008.9:g.17961445G>A	NCBI36
NG_008985.1:g.30343C>T
NG_008985.2:g.30343C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.833C>T MANE Select	NP_808592.2:p.Pro278Leu
ENST00000637790.2:c.833C>T MANE Select	ENSP00000490272.1:p.Pro278Leu
NM_001127505.1:c.815C>T	NP_001120977.1:p.Pro272Leu
NM_001127505.2:c.815C>T	NP_001120977.1:p.Pro272Leu
NM_001127505.3:c.815C>T	NP_001120977.1:p.Pro272Leu
NM_001363743.1:c.638C>T	NP_001350672.1:p.Pro213Leu
NM_001363743.2:c.638C>T	NP_001350672.1:p.Pro213Leu
NM_004315.4:c.881C>T	NP_004306.3:p.Pro294Leu
NM_004315.5:c.881C>T	NP_004306.3:p.Pro294Leu
NM_004315.6:c.881C>T	NP_004306.3:p.Pro294Leu
NM_177924.3:c.833C>T	NP_808592.2:p.Pro278Leu
NM_177924.4:c.833C>T	NP_808592.2:p.Pro278Leu
ENST00000262097.10:c.833C>T	ENSP00000262097.6:p.Pro278Leu
ENST00000314146.10:c.815C>T	ENSP00000326970.10:p.Pro272Leu
ENST00000381733.8:c.881C>T	ENSP00000371152.4:p.Pro294Leu
ENST00000381733.9:c.881C>T	ENSP00000371152.4:p.Pro294Leu
ENST00000518746.2:n.2519C>T
ENST00000519468.5:n.662C>T
ENST00000520781.5:c.758C>T	ENSP00000427751.1:p.Pro253Leu
ENST00000520781.6:c.758C>T	ENSP00000427751.1:p.Pro253Leu
ENST00000521542.1:n.546C>T
ENST00000521542.2:n.1814C>T
ENST00000635756.1:c.246C>T
ENST00000635944.1:c.*669C>T	ENSP00000490195.1:n.*669C>T
ENST00000635998.1:c.833C>T	ENSP00000490506.1:p.Pro278Leu
ENST00000636009.1:c.690C>T	ENSP00000489988.1:n.690C>T
ENST00000636033.1:c.*669C>T	ENSP00000489617.1:n.*669C>T
ENST00000636050.1:c.*676C>T	ENSP00000490562.1:n.*676C>T
ENST00000636128.1:c.512C>T	ENSP00000489789.1:p.Pro171Leu
ENST00000636160.1:c.*725C>T	ENSP00000489651.1:n.*725C>T
ENST00000636171.1:c.776C>T	ENSP00000489761.1:p.Pro259Leu
ENST00000636455.1:c.881C>T	ENSP00000490502.1:p.Pro294Leu
ENST00000636494.1:c.*613C>T	ENSP00000490388.1:n.*613C>T
ENST00000636563.1:n.495C>T
ENST00000636577.1:c.773C>T	ENSP00000490027.1:p.Pro258Leu
ENST00000636691.1:c.638C>T	ENSP00000490725.1:p.Pro213Leu
ENST00000636701.1:c.*484C>T	ENSP00000489800.1:n.*484C>T
ENST00000636815.1:c.750C>T
ENST00000636920.1:c.*669C>T	ENSP00000490437.1:n.*669C>T
ENST00000636997.1:c.746C>T	ENSP00000490093.1:p.Pro249Leu
ENST00000637013.1:c.*1201C>T	ENSP00000490596.1:n.*1201C>T
ENST00000637014.1:n.1240C>T
ENST00000637095.1:c.*613C>T	ENSP00000490415.1:n.*613C>T
ENST00000637244.1:c.*1351C>T	ENSP00000490188.1:n.*1351C>T
ENST00000637343.1:n.2270C>T
ENST00000637429.1:c.*1045C>T	ENSP00000490522.1:n.*1045C>T
ENST00000637484.1:c.*795C>T	ENSP00000490837.1:n.*795C>T
ENST00000637528.1:c.770C>T	ENSP00000490801.1:p.Pro257Leu
ENST00000637609.1:n.3554C>T
ENST00000637636.1:c.827C>T	ENSP00000490112.1:p.Pro276Leu
ENST00000637857.1:n.1199C>T
ENST00000637922.1:c.638C>T	ENSP00000490071.1:p.Pro213Leu
ENST00000637991.1:c.806C>T	ENSP00000489901.1:p.Pro269Leu
ENST00000638028.1:n.1050C>T
ENST00000638069.1:n.1654C>T
XM_005273504.2:c.767C>T	XP_005273561.1:p.Pro256Leu
XM_005273504.3:c.767C>T	XP_005273561.1:p.Pro256Leu