Canonical Allele Identifier: CA390751389

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450746A>G (hg19) ; chr14:g.87984402A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984402A>G , CM000676.2:g.87984402A>G	GRCh38
NC_000014.8:g.88450746A>G , CM000676.1:g.88450746A>G	GRCh37
NC_000014.7:g.87520499A>G	NCBI36
NG_011853.2:g.14162T>C
NG_011853.3:g.14162T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.574T>C MANE Select	ENSP00000261304.2:p.Tyr192His
ENST00000261304.6:c.574T>C	ENSP00000261304.2:p.Tyr192His
ENST00000393568.8:c.505T>C	ENSP00000377198.4:p.Tyr169His
ENST00000393569.6:c.496T>C	ENSP00000377199.2:p.Tyr166His
ENST00000474294.6:n.564T>C
ENST00000544807.6:c.406T>C	ENSP00000437513.2:p.Tyr136His
ENST00000554372.5:c.*323T>C	ENSP00000451884.1:n.*323T>C
ENST00000554916.5:n.453T>C
ENST00000556261.5:n.275T>C
ENST00000557316.5:c.574T>C	ENSP00000452314.1:p.Tyr192His
ENST00000622264.4:c.564T>C
NM_000153.3:c.574T>C	NP_000144.2:p.Tyr192His
NM_001201401.1:c.505T>C	NP_001188330.1:p.Tyr169His
NM_001201402.1:c.496T>C	NP_001188331.1:p.Tyr166His
XM_011536618.1:c.406T>C	XP_011534920.1:p.Tyr136His
XM_011536618.2:c.406T>C	XP_011534920.1:p.Tyr136His
NM_000153.4:c.574T>C MANE Select	NP_000144.2:p.Tyr192His
NM_001201401.2:c.505T>C	NP_001188330.1:p.Tyr169His
NM_001201402.2:c.496T>C	NP_001188331.1:p.Tyr166His