Canonical Allele Identifier: CA390745545

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88406317T>A (hg19) ; chr14:g.87939973T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939973T>A , CM000676.2:g.87939973T>A	GRCh38
NC_000014.8:g.88406317T>A , CM000676.1:g.88406317T>A	GRCh37
NC_000014.7:g.87476070T>A	NCBI36
NG_011853.2:g.58591A>T
NG_011853.3:g.58591A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1843A>T MANE Select	ENSP00000261304.2:p.Ile615Phe
ENST00000261304.6:c.1843A>T	ENSP00000261304.2:p.Ile615Phe
ENST00000393568.8:c.1774A>T	ENSP00000377198.4:p.Ile592Phe
ENST00000393569.6:c.1765A>T	ENSP00000377199.2:p.Ile589Phe
ENST00000544807.6:c.1675A>T	ENSP00000437513.2:p.Ile559Phe
ENST00000555000.5:c.1210A>T	ENSP00000450472.1:p.Ile404Phe
ENST00000555179.1:c.379A>T
NM_000153.3:c.1843A>T	NP_000144.2:p.Ile615Phe
NM_001201401.1:c.1774A>T	NP_001188330.1:p.Ile592Phe
NM_001201402.1:c.1765A>T	NP_001188331.1:p.Ile589Phe
XM_011536618.1:c.1675A>T	XP_011534920.1:p.Ile559Phe
XM_011536618.2:c.1675A>T	XP_011534920.1:p.Ile559Phe
NM_000153.4:c.1843A>T MANE Select	NP_000144.2:p.Ile615Phe
NM_001201401.2:c.1774A>T	NP_001188330.1:p.Ile592Phe
NM_001201402.2:c.1765A>T	NP_001188331.1:p.Ile589Phe