Canonical Allele Identifier: CA390751469

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450763T>G (hg19) ; chr14:g.87984419T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984419T>G , CM000676.2:g.87984419T>G	GRCh38
NC_000014.8:g.88450763T>G , CM000676.1:g.88450763T>G	GRCh37
NC_000014.7:g.87520516T>G	NCBI36
NG_011853.2:g.14145A>C
NG_011853.3:g.14145A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.557A>C MANE Select	ENSP00000261304.2:p.His186Pro
ENST00000261304.6:c.557A>C	ENSP00000261304.2:p.His186Pro
ENST00000393568.8:c.488A>C	ENSP00000377198.4:p.His163Pro
ENST00000393569.6:c.479A>C	ENSP00000377199.2:p.His160Pro
ENST00000474294.6:n.547A>C
ENST00000544807.6:c.389A>C	ENSP00000437513.2:p.His130Pro
ENST00000554372.5:c.*306A>C	ENSP00000451884.1:n.*306A>C
ENST00000554916.5:n.436A>C
ENST00000556261.5:n.258A>C
ENST00000557316.5:c.557A>C	ENSP00000452314.1:p.His186Pro
ENST00000622264.4:c.547A>C
NM_000153.3:c.557A>C	NP_000144.2:p.His186Pro
NM_001201401.1:c.488A>C	NP_001188330.1:p.His163Pro
NM_001201402.1:c.479A>C	NP_001188331.1:p.His160Pro
XM_011536618.1:c.389A>C	XP_011534920.1:p.His130Pro
XM_011536618.2:c.389A>C	XP_011534920.1:p.His130Pro
NM_000153.4:c.557A>C MANE Select	NP_000144.2:p.His186Pro
NM_001201401.2:c.488A>C	NP_001188330.1:p.His163Pro
NM_001201402.2:c.479A>C	NP_001188331.1:p.His160Pro