Canonical Allele Identifier: CA487366447

Gene: GALC

Linked Data

• dbSNP Id: rs1886883062
• MyVariant Identifiers: chr14:g.88450780C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984436C>G , CM000676.2:g.87984436C>G	GRCh38
NC_000014.8:g.88450780C>G , CM000676.1:g.88450780C>G	GRCh37
NC_000014.7:g.87520533C>G	NCBI36
NG_011853.2:g.14128G>C
NG_011853.3:g.14128G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.540G>C MANE Select	ENSP00000261304.2:p.Val180=
ENST00000261304.6:c.540G>C	ENSP00000261304.2:p.Val180=
ENST00000393568.8:c.471G>C	ENSP00000377198.4:p.Val157=
ENST00000393569.6:c.462G>C	ENSP00000377199.2:p.Val154=
ENST00000474294.6:n.530G>C
ENST00000544807.6:c.372G>C	ENSP00000437513.2:p.Val124=
ENST00000554372.5:c.*289G>C	ENSP00000451884.1:n.*289G>C
ENST00000554916.5:n.419G>C
ENST00000556261.5:n.241G>C
ENST00000557316.5:c.540G>C	ENSP00000452314.1:p.Val180=
ENST00000622264.4:c.530G>C
NM_000153.3:c.540G>C	NP_000144.2:p.Val180=
NM_001201401.1:c.471G>C	NP_001188330.1:p.Val157=
NM_001201402.1:c.462G>C	NP_001188331.1:p.Val154=
XM_011536618.1:c.372G>C	XP_011534920.1:p.Val124=
XM_011536618.2:c.372G>C	XP_011534920.1:p.Val124=
NM_000153.4:c.540G>C MANE Select	NP_000144.2:p.Val180=
NM_001201401.2:c.471G>C	NP_001188330.1:p.Val157=
NM_001201402.2:c.462G>C	NP_001188331.1:p.Val154=