Canonical Allele Identifier: CA373284167

Gene: GALT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649004C>G , CM000671.2:g.34649004C>G	GRCh38
NC_000009.11:g.34649001C>G , CM000671.1:g.34649001C>G	GRCh37
NC_000009.10:g.34639001C>G	NCBI36
NG_009029.1:g.7367C>G
NG_028966.1:g.1820C>G
NG_009029.2:g.7416C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000155.4:c.827C>G MANE Select	NP_000146.2:p.Ala276Gly
ENST00000378842.8:c.827C>G MANE Select	ENSP00000368119.4:p.Ala276Gly
NM_000155.3:c.827C>G	NP_000146.2:p.Ala276Gly
NM_001258332.1:c.500C>G	NP_001245261.1:p.Ala167Gly
NM_001258332.2:c.500C>G	NP_001245261.1:p.Ala167Gly
ENST00000378842.7:c.827C>G	ENSP00000368119.3:p.Ala276Gly
ENST00000450095.6:c.500C>G	ENSP00000401956.2:p.Ala167Gly
ENST00000488412.2:n.83C>G
ENST00000489643.6:n.907C>G
ENST00000554085.5:c.*571C>G	ENSP00000450419.1:n.*571C>G
ENST00000554550.5:c.*447C>G	ENSP00000451435.1:n.*447C>G
ENST00000554638.5:n.1299C>G
ENST00000555020.5:n.1288C>G
ENST00000555086.5:n.934C>G
ENST00000555754.1:n.275C>G
ENST00000556278.1:c.432+548C>G	ENSP00000451792.1:n.432+548C>G
ENST00000557706.5:n.1402C>G
ENST00000691183.1:c.*415C>G	ENSP00000509954.1:n.*415C>G