Canonical Allele Identifier: CA390746276

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412047A>G (hg19) ; chr14:g.87945703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945703A>G , CM000676.2:g.87945703A>G	GRCh38
NC_000014.8:g.88412047A>G , CM000676.1:g.88412047A>G	GRCh37
NC_000014.7:g.87481800A>G	NCBI36
NG_011853.2:g.52861T>C
NG_011853.3:g.52861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1520T>C MANE Select	ENSP00000261304.2:p.Phe507Ser
ENST00000261304.6:c.1520T>C	ENSP00000261304.2:p.Phe507Ser
ENST00000393568.8:c.1451T>C	ENSP00000377198.4:p.Phe484Ser
ENST00000393569.6:c.1442T>C	ENSP00000377199.2:p.Phe481Ser
ENST00000544807.6:c.1352T>C	ENSP00000437513.2:p.Phe451Ser
ENST00000555000.5:c.887T>C	ENSP00000450472.1:p.Phe296Ser
ENST00000555179.1:c.206+2025T>C
ENST00000557316.5:c.*918T>C	ENSP00000452314.1:n.*918T>C
NM_000153.3:c.1520T>C	NP_000144.2:p.Phe507Ser
NM_001201401.1:c.1451T>C	NP_001188330.1:p.Phe484Ser
NM_001201402.1:c.1442T>C	NP_001188331.1:p.Phe481Ser
XM_011536618.1:c.1352T>C	XP_011534920.1:p.Phe451Ser
XM_011536618.2:c.1352T>C	XP_011534920.1:p.Phe451Ser
NM_000153.4:c.1520T>C MANE Select	NP_000144.2:p.Phe507Ser
NM_001201401.2:c.1451T>C	NP_001188330.1:p.Phe484Ser
NM_001201402.2:c.1442T>C	NP_001188331.1:p.Phe481Ser