Canonical Allele Identifier: CA487355289

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939920G>A , CM000676.2:g.87939920G>A	GRCh38
NC_000014.8:g.88406264G>A , CM000676.1:g.88406264G>A	GRCh37
NC_000014.7:g.87476017G>A	NCBI36
NG_011853.2:g.58644C>T
NG_011853.3:g.58644C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1896C>T MANE Select	NP_000144.2:p.Leu632=
ENST00000261304.7:c.1896C>T MANE Select	ENSP00000261304.2:p.Leu632=
NM_000153.3:c.1896C>T	NP_000144.2:p.Leu632=
NM_001201401.1:c.1827C>T	NP_001188330.1:p.Leu609=
NM_001201401.2:c.1827C>T	NP_001188330.1:p.Leu609=
NM_001201402.1:c.1818C>T	NP_001188331.1:p.Leu606=
NM_001201402.2:c.1818C>T	NP_001188331.1:p.Leu606=
ENST00000261304.6:c.1896C>T	ENSP00000261304.2:p.Leu632=
ENST00000393568.8:c.1827C>T	ENSP00000377198.4:p.Leu609=
ENST00000393569.6:c.1818C>T	ENSP00000377199.2:p.Leu606=
ENST00000544807.6:c.1728C>T	ENSP00000437513.2:p.Leu576=
ENST00000555000.5:c.1263C>T	ENSP00000450472.1:p.Leu421=
ENST00000555179.1:c.432C>T
XM_011536618.1:c.1728C>T	XP_011534920.1:p.Leu576=
XM_011536618.2:c.1728C>T	XP_011534920.1:p.Leu576=