Canonical Allele Identifier: CA2153345222

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965582T= , CM000676.2:g.87965582T=	GRCh38
NC_000014.8:g.88431926T= , CM000676.1:g.88431926T=	GRCh37
NC_000014.7:g.87501679T=	NCBI36
NG_011853.2:g.32982A=
NG_011853.3:g.32982A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.956A= MANE Select	NP_000144.2:p.Tyr319=
ENST00000261304.7:c.956A= MANE Select	ENSP00000261304.2:p.Tyr319=
NM_000153.3:c.956A=	NP_000144.2:p.Tyr319=
NM_001201401.1:c.887A=	NP_001188330.1:p.Tyr296=
NM_001201401.2:c.887A=	NP_001188330.1:p.Tyr296=
NM_001201402.1:c.878A=	NP_001188331.1:p.Tyr293=
NM_001201402.2:c.878A=	NP_001188331.1:p.Tyr293=
ENST00000261304.6:c.956A=	ENSP00000261304.2:p.Tyr319=
ENST00000393568.8:c.887A=	ENSP00000377198.4:p.Tyr296=
ENST00000393569.6:c.878A=	ENSP00000377199.2:p.Tyr293=
ENST00000474294.6:n.946A=
ENST00000544807.6:c.788A=	ENSP00000437513.2:p.Tyr263=
ENST00000555000.5:c.323A=	ENSP00000450472.1:p.Tyr108=
ENST00000557316.5:c.*354A=	ENSP00000452314.1:n.*354A=
ENST00000557520.1:n.42A=
ENST00000622264.4:c.946A=
XM_011536618.1:c.788A=	XP_011534920.1:p.Tyr263=
XM_011536618.2:c.788A=	XP_011534920.1:p.Tyr263=