Canonical Allele Identifier: CA390752493

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452875T>C (hg19) ; chr14:g.87986531T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986531T>C , CM000676.2:g.87986531T>C	GRCh38
NC_000014.8:g.88452875T>C , CM000676.1:g.88452875T>C	GRCh37
NC_000014.7:g.87522628T>C	NCBI36
NG_011853.2:g.12033A>G
NG_011853.3:g.12033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.400A>G MANE Select	ENSP00000261304.2:p.Met134Val
ENST00000261304.6:c.400A>G	ENSP00000261304.2:p.Met134Val
ENST00000393568.8:c.331A>G	ENSP00000377198.4:p.Met111Val
ENST00000393569.6:c.322A>G	ENSP00000377199.2:p.Met108Val
ENST00000474294.6:n.390A>G
ENST00000544807.6:c.232A>G	ENSP00000437513.2:p.Met78Val
ENST00000554372.5:c.*149A>G	ENSP00000451884.1:n.*149A>G
ENST00000554916.5:n.279A>G
ENST00000556261.5:n.101A>G
ENST00000556879.5:c.460A>G	ENSP00000452208.1:n.460A>G
ENST00000557316.5:c.400A>G	ENSP00000452314.1:p.Met134Val
ENST00000622264.4:c.390A>G
NM_000153.3:c.400A>G	NP_000144.2:p.Met134Val
NM_001201401.1:c.331A>G	NP_001188330.1:p.Met111Val
NM_001201402.1:c.322A>G	NP_001188331.1:p.Met108Val
XM_011536618.1:c.232A>G	XP_011534920.1:p.Met78Val
XM_011536618.2:c.232A>G	XP_011534920.1:p.Met78Val
NM_000153.4:c.400A>G MANE Select	NP_000144.2:p.Met134Val
NM_001201401.2:c.331A>G	NP_001188330.1:p.Met111Val
NM_001201402.2:c.322A>G	NP_001188331.1:p.Met108Val