Canonical Allele Identifier: CA390751441

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450757A>G (hg19) ; chr14:g.87984413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984413A>G , CM000676.2:g.87984413A>G	GRCh38
NC_000014.8:g.88450757A>G , CM000676.1:g.88450757A>G	GRCh37
NC_000014.7:g.87520510A>G	NCBI36
NG_011853.2:g.14151T>C
NG_011853.3:g.14151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.563T>C MANE Select	ENSP00000261304.2:p.Leu188Ser
ENST00000261304.6:c.563T>C	ENSP00000261304.2:p.Leu188Ser
ENST00000393568.8:c.494T>C	ENSP00000377198.4:p.Leu165Ser
ENST00000393569.6:c.485T>C	ENSP00000377199.2:p.Leu162Ser
ENST00000474294.6:n.553T>C
ENST00000544807.6:c.395T>C	ENSP00000437513.2:p.Leu132Ser
ENST00000554372.5:c.*312T>C	ENSP00000451884.1:n.*312T>C
ENST00000554916.5:n.442T>C
ENST00000556261.5:n.264T>C
ENST00000557316.5:c.563T>C	ENSP00000452314.1:p.Leu188Ser
ENST00000622264.4:c.553T>C
NM_000153.3:c.563T>C	NP_000144.2:p.Leu188Ser
NM_001201401.1:c.494T>C	NP_001188330.1:p.Leu165Ser
NM_001201402.1:c.485T>C	NP_001188331.1:p.Leu162Ser
XM_011536618.1:c.395T>C	XP_011534920.1:p.Leu132Ser
XM_011536618.2:c.395T>C	XP_011534920.1:p.Leu132Ser
NM_000153.4:c.563T>C MANE Select	NP_000144.2:p.Leu188Ser
NM_001201401.2:c.494T>C	NP_001188330.1:p.Leu165Ser
NM_001201402.2:c.485T>C	NP_001188331.1:p.Leu162Ser