Canonical Allele Identifier: CA2153345190

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965517C= , CM000676.2:g.87965517C=	GRCh38
NC_000014.8:g.88431861C= , CM000676.1:g.88431861C=	GRCh37
NC_000014.7:g.87501614C=	NCBI36
NG_011853.2:g.33047G=
NG_011853.3:g.33047G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1021G= MANE Select	NP_000144.2:p.Val341=
ENST00000261304.7:c.1021G= MANE Select	ENSP00000261304.2:p.Val341=
NM_000153.3:c.1021G=	NP_000144.2:p.Val341=
NM_001201401.1:c.952G=	NP_001188330.1:p.Val318=
NM_001201401.2:c.952G=	NP_001188330.1:p.Val318=
NM_001201402.1:c.943G=	NP_001188331.1:p.Val315=
NM_001201402.2:c.943G=	NP_001188331.1:p.Val315=
ENST00000261304.6:c.1021G=	ENSP00000261304.2:p.Val341=
ENST00000393568.8:c.952G=	ENSP00000377198.4:p.Val318=
ENST00000393569.6:c.943G=	ENSP00000377199.2:p.Val315=
ENST00000474294.6:n.1011G=
ENST00000544807.6:c.853G=	ENSP00000437513.2:p.Val285=
ENST00000555000.5:c.388G=	ENSP00000450472.1:p.Val130=
ENST00000557316.5:c.*419G=	ENSP00000452314.1:n.*419G=
ENST00000557520.1:n.107G=
ENST00000622264.4:c.1011G=
XM_011536618.1:c.853G=	XP_011534920.1:p.Val285=
XM_011536618.2:c.853G=	XP_011534920.1:p.Val285=