Canonical Allele Identifier: CA390746647

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414204T>G (hg19) ; chr14:g.87947860T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947860T>G , CM000676.2:g.87947860T>G	GRCh38
NC_000014.8:g.88414204T>G , CM000676.1:g.88414204T>G	GRCh37
NC_000014.7:g.87483957T>G	NCBI36
NG_011853.2:g.50704A>C
NG_011853.3:g.50704A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1357A>C MANE Select	ENSP00000261304.2:p.Ser453Arg
ENST00000261304.6:c.1357A>C	ENSP00000261304.2:p.Ser453Arg
ENST00000393568.8:c.1288A>C	ENSP00000377198.4:p.Ser430Arg
ENST00000393569.6:c.1279A>C	ENSP00000377199.2:p.Ser427Arg
ENST00000544807.6:c.1189A>C	ENSP00000437513.2:p.Ser397Arg
ENST00000555000.5:c.724A>C	ENSP00000450472.1:p.Ser242Arg
ENST00000555179.1:c.74A>C
ENST00000557316.5:c.*755A>C	ENSP00000452314.1:n.*755A>C
NM_000153.3:c.1357A>C	NP_000144.2:p.Ser453Arg
NM_001201401.1:c.1288A>C	NP_001188330.1:p.Ser430Arg
NM_001201402.1:c.1279A>C	NP_001188331.1:p.Ser427Arg
XM_011536618.1:c.1189A>C	XP_011534920.1:p.Ser397Arg
XM_011536618.2:c.1189A>C	XP_011534920.1:p.Ser397Arg
NM_000153.4:c.1357A>C MANE Select	NP_000144.2:p.Ser453Arg
NM_001201401.2:c.1288A>C	NP_001188330.1:p.Ser430Arg
NM_001201402.2:c.1279A>C	NP_001188331.1:p.Ser427Arg