Canonical Allele Identifier: CA390749311

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442720T>G (hg19) ; chr14:g.87976376T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976376T>G , CM000676.2:g.87976376T>G	GRCh38
NC_000014.8:g.88442720T>G , CM000676.1:g.88442720T>G	GRCh37
NC_000014.7:g.87512473T>G	NCBI36
NG_011853.2:g.22188A>C
NG_011853.3:g.22188A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.734A>C MANE Select	ENSP00000261304.2:p.Lys245Thr
ENST00000261304.6:c.734A>C	ENSP00000261304.2:p.Lys245Thr
ENST00000393568.8:c.665A>C	ENSP00000377198.4:p.Lys222Thr
ENST00000393569.6:c.656A>C	ENSP00000377199.2:p.Lys219Thr
ENST00000474294.6:n.724A>C
ENST00000477716.3:n.489A>C
ENST00000544807.6:c.566A>C	ENSP00000437513.2:p.Lys189Thr
ENST00000554916.5:n.613A>C
ENST00000555000.5:c.101A>C	ENSP00000450472.1:p.Lys34Thr
ENST00000557316.5:c.*132A>C	ENSP00000452314.1:n.*132A>C
ENST00000622264.4:c.724A>C
NM_000153.3:c.734A>C	NP_000144.2:p.Lys245Thr
NM_001201401.1:c.665A>C	NP_001188330.1:p.Lys222Thr
NM_001201402.1:c.656A>C	NP_001188331.1:p.Lys219Thr
XM_011536618.1:c.566A>C	XP_011534920.1:p.Lys189Thr
XM_011536618.2:c.566A>C	XP_011534920.1:p.Lys189Thr
NM_000153.4:c.734A>C MANE Select	NP_000144.2:p.Lys245Thr
NM_001201401.2:c.665A>C	NP_001188330.1:p.Lys222Thr
NM_001201402.2:c.656A>C	NP_001188331.1:p.Lys219Thr