Canonical Allele Identifier: CA487366621

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452912T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986568T>G , CM000676.2:g.87986568T>G	GRCh38
NC_000014.8:g.88452912T>G , CM000676.1:g.88452912T>G	GRCh37
NC_000014.7:g.87522665T>G	NCBI36
NG_011853.2:g.11996A>C
NG_011853.3:g.11996A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.363A>C MANE Select	ENSP00000261304.2:p.Leu121=
ENST00000261304.6:c.363A>C	ENSP00000261304.2:p.Leu121=
ENST00000393568.8:c.294A>C	ENSP00000377198.4:p.Leu98=
ENST00000393569.6:c.285A>C	ENSP00000377199.2:p.Leu95=
ENST00000474294.6:n.353A>C
ENST00000544807.6:c.195A>C	ENSP00000437513.2:p.Leu65=
ENST00000554372.5:c.*112A>C	ENSP00000451884.1:n.*112A>C
ENST00000554916.5:n.242A>C
ENST00000556261.5:n.64A>C
ENST00000556879.5:c.423A>C	ENSP00000452208.1:n.423A>C
ENST00000557316.5:c.363A>C	ENSP00000452314.1:p.Leu121=
ENST00000622264.4:c.353A>C
NM_000153.3:c.363A>C	NP_000144.2:p.Leu121=
NM_001201401.1:c.294A>C	NP_001188330.1:p.Leu98=
NM_001201402.1:c.285A>C	NP_001188331.1:p.Leu95=
XM_011536618.1:c.195A>C	XP_011534920.1:p.Leu65=
XM_011536618.2:c.195A>C	XP_011534920.1:p.Leu65=
NM_000153.4:c.363A>C MANE Select	NP_000144.2:p.Leu121=
NM_001201401.2:c.294A>C	NP_001188330.1:p.Leu98=
NM_001201402.2:c.285A>C	NP_001188331.1:p.Leu95=