Canonical Allele Identifier: CA390749470

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442756A>G (hg19) ; chr14:g.87976412A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976412A>G , CM000676.2:g.87976412A>G	GRCh38
NC_000014.8:g.88442756A>G , CM000676.1:g.88442756A>G	GRCh37
NC_000014.7:g.87512509A>G	NCBI36
NG_011853.2:g.22152T>C
NG_011853.3:g.22152T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.698T>C MANE Select	ENSP00000261304.2:p.Ile233Thr
ENST00000261304.6:c.698T>C	ENSP00000261304.2:p.Ile233Thr
ENST00000393568.8:c.629T>C	ENSP00000377198.4:p.Ile210Thr
ENST00000393569.6:c.620T>C	ENSP00000377199.2:p.Ile207Thr
ENST00000474294.6:n.688T>C
ENST00000477716.3:n.453T>C
ENST00000544807.6:c.530T>C	ENSP00000437513.2:p.Ile177Thr
ENST00000554916.5:n.577T>C
ENST00000555000.5:c.65T>C	ENSP00000450472.1:p.Ile22Thr
ENST00000557316.5:c.*96T>C	ENSP00000452314.1:n.*96T>C
ENST00000622264.4:c.688T>C
NM_000153.3:c.698T>C	NP_000144.2:p.Ile233Thr
NM_001201401.1:c.629T>C	NP_001188330.1:p.Ile210Thr
NM_001201402.1:c.620T>C	NP_001188331.1:p.Ile207Thr
XM_011536618.1:c.530T>C	XP_011534920.1:p.Ile177Thr
XM_011536618.2:c.530T>C	XP_011534920.1:p.Ile177Thr
NM_000153.4:c.698T>C MANE Select	NP_000144.2:p.Ile233Thr
NM_001201401.2:c.629T>C	NP_001188330.1:p.Ile210Thr
NM_001201402.2:c.620T>C	NP_001188331.1:p.Ile207Thr