Canonical Allele Identifier: CA2153384564

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982227G= , CM000676.2:g.87982227G=	GRCh38
NC_000014.8:g.88448571G= , CM000676.1:g.88448571G=	GRCh37
NC_000014.7:g.87518324G=	NCBI36
NG_011853.2:g.16337C=
NG_011853.3:g.16337C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.599C= MANE Select	NP_000144.2:p.Ser200=
ENST00000261304.7:c.599C= MANE Select	ENSP00000261304.2:p.Ser200=
NM_000153.3:c.599C=	NP_000144.2:p.Ser200=
NM_001201401.1:c.530C=	NP_001188330.1:p.Ser177=
NM_001201401.2:c.530C=	NP_001188330.1:p.Ser177=
NM_001201402.1:c.521C=	NP_001188331.1:p.Ser174=
NM_001201402.2:c.521C=	NP_001188331.1:p.Ser174=
ENST00000261304.6:c.599C=	ENSP00000261304.2:p.Ser200=
ENST00000393568.8:c.530C=	ENSP00000377198.4:p.Ser177=
ENST00000393569.6:c.521C=	ENSP00000377199.2:p.Ser174=
ENST00000474294.6:n.589C=
ENST00000544807.6:c.431C=	ENSP00000437513.2:p.Ser144=
ENST00000554372.5:c.*348C=	ENSP00000451884.1:n.*348C=
ENST00000554916.5:n.478C=
ENST00000556261.5:n.300C=
ENST00000557316.5:c.599C=	ENSP00000452314.1:p.Ser200=
ENST00000622264.4:c.589C=
XM_011536618.1:c.431C=	XP_011534920.1:p.Ser144=
XM_011536618.2:c.431C=	XP_011534920.1:p.Ser144=