Canonical Allele Identifier: CA487366728

Gene: GALC

Linked Data

• dbSNP Id: rs1384569360
• gnomAD v2: 14-88454862-G-A
• gnomAD v4: 14-87988518-G-A
• MyVariant Identifiers: chr14:g.88454862G>A (hg19) ; chr14:g.87988518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988518G>A , CM000676.2:g.87988518G>A	GRCh38
NC_000014.8:g.88454862G>A , CM000676.1:g.88454862G>A	GRCh37
NC_000014.7:g.87524615G>A	NCBI36
NG_011853.2:g.10046C>T
NG_011853.3:g.10046C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.201C>T MANE Select	ENSP00000261304.2:p.Thr67=
ENST00000261304.6:c.201C>T	ENSP00000261304.2:p.Thr67=
ENST00000393568.8:c.196-311C>T	ENSP00000377198.4:n.196-311C>T
ENST00000393569.6:c.123C>T	ENSP00000377199.2:p.Thr41=
ENST00000474294.6:n.191C>T
ENST00000544807.6:c.33C>T	ENSP00000437513.2:p.Thr11=
ENST00000554372.5:c.201C>T	ENSP00000451884.1:p.Thr67=
ENST00000554916.5:n.80C>T
ENST00000555956.1:n.6C>T
ENST00000556879.5:c.261C>T	ENSP00000452208.1:n.261C>T
ENST00000557316.5:c.201C>T	ENSP00000452314.1:p.Thr67=
ENST00000622264.4:c.191C>T
NM_000153.3:c.201C>T	NP_000144.2:p.Thr67=
NM_001201401.1:c.196-311C>T	NP_001188330.1:n.196-311C>T
NM_001201402.1:c.123C>T	NP_001188331.1:p.Thr41=
XM_011536618.1:c.33C>T	XP_011534920.1:p.Thr11=
XM_011536618.2:c.33C>T	XP_011534920.1:p.Thr11=
NM_000153.4:c.201C>T MANE Select	NP_000144.2:p.Thr67=
NM_001201401.2:c.196-311C>T	NP_001188330.1:n.196-311C>T
NM_001201402.2:c.123C>T	NP_001188331.1:p.Thr41=