Canonical Allele Identifier: CA390749293

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442715C>G (hg19) ; chr14:g.87976371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976371C>G , CM000676.2:g.87976371C>G	GRCh38
NC_000014.8:g.88442715C>G , CM000676.1:g.88442715C>G	GRCh37
NC_000014.7:g.87512468C>G	NCBI36
NG_011853.2:g.22193G>C
NG_011853.3:g.22193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.739G>C MANE Select	ENSP00000261304.2:p.Val247Leu
ENST00000261304.6:c.739G>C	ENSP00000261304.2:p.Val247Leu
ENST00000393568.8:c.670G>C	ENSP00000377198.4:p.Val224Leu
ENST00000393569.6:c.661G>C	ENSP00000377199.2:p.Val221Leu
ENST00000474294.6:n.729G>C
ENST00000477716.3:n.494G>C
ENST00000544807.6:c.571G>C	ENSP00000437513.2:p.Val191Leu
ENST00000554916.5:n.618G>C
ENST00000555000.5:c.106G>C	ENSP00000450472.1:p.Val36Leu
ENST00000557316.5:c.*137G>C	ENSP00000452314.1:n.*137G>C
ENST00000622264.4:c.729G>C
NM_000153.3:c.739G>C	NP_000144.2:p.Val247Leu
NM_001201401.1:c.670G>C	NP_001188330.1:p.Val224Leu
NM_001201402.1:c.661G>C	NP_001188331.1:p.Val221Leu
XM_011536618.1:c.571G>C	XP_011534920.1:p.Val191Leu
XM_011536618.2:c.571G>C	XP_011534920.1:p.Val191Leu
NM_000153.4:c.739G>C MANE Select	NP_000144.2:p.Val247Leu
NM_001201401.2:c.670G>C	NP_001188330.1:p.Val224Leu
NM_001201402.2:c.661G>C	NP_001188331.1:p.Val221Leu