Canonical Allele Identifier: CA264679938

Gene: GALC

Linked Data

• ClinVar Variation Id: 1109198
• ClinVar RCV Id: RCV001434966 ; RCV003394049
• dbSNP Id: rs1002946173
• gnomAD v2: 14-88407782-G-A
• gnomAD v3: 14-87941438-G-A
• gnomAD v4: 14-87941438-G-A
• MyVariant Identifiers: chr14:g.88407782G>A (hg19) ; chr14:g.87941438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941438G>A , CM000676.2:g.87941438G>A	GRCh38
NC_000014.8:g.88407782G>A , CM000676.1:g.88407782G>A	GRCh37
NC_000014.7:g.87477535G>A	NCBI36
NG_011853.2:g.57126C>T
NG_011853.3:g.57126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1791C>T MANE Select	ENSP00000261304.2:p.Phe597=
ENST00000261304.6:c.1791C>T	ENSP00000261304.2:p.Phe597=
ENST00000393568.8:c.1722C>T	ENSP00000377198.4:p.Phe574=
ENST00000393569.6:c.1713C>T	ENSP00000377199.2:p.Phe571=
ENST00000544807.6:c.1623C>T	ENSP00000437513.2:p.Phe541=
ENST00000555000.5:c.1158C>T	ENSP00000450472.1:p.Phe386=
ENST00000555179.1:c.327C>T
ENST00000557316.5:c.*1189C>T	ENSP00000452314.1:n.*1189C>T
NM_000153.3:c.1791C>T	NP_000144.2:p.Phe597=
NM_001201401.1:c.1722C>T	NP_001188330.1:p.Phe574=
NM_001201402.1:c.1713C>T	NP_001188331.1:p.Phe571=
XM_011536618.1:c.1623C>T	XP_011534920.1:p.Phe541=
XM_011536618.2:c.1623C>T	XP_011534920.1:p.Phe541=
NM_000153.4:c.1791C>T MANE Select	NP_000144.2:p.Phe597=
NM_001201401.2:c.1722C>T	NP_001188330.1:p.Phe574=
NM_001201402.2:c.1713C>T	NP_001188331.1:p.Phe571=