Canonical Allele Identifier: CA373280608

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647845C>G (hg19) ; chr9:g.34647848C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647848C>G , CM000671.2:g.34647848C>G	GRCh38
NC_000009.11:g.34647845C>G , CM000671.1:g.34647845C>G	GRCh37
NC_000009.10:g.34637845C>G	NCBI36
NG_009029.1:g.6211C>G
NG_028966.1:g.664C>G
NG_009029.2:g.6260C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.345C>G	ENSP00000509954.1:p.Ser115=
ENST00000378842.8:c.394C>G MANE Select	ENSP00000368119.4:p.His132Asp
ENST00000378842.7:c.394C>G	ENSP00000368119.3:p.His132Asp
ENST00000450095.6:c.67C>G	ENSP00000401956.2:p.His23Asp
ENST00000465543.6:n.733C>G
ENST00000472111.5:n.650C>G
ENST00000473506.6:c.345C>G	ENSP00000432839.2:p.Ser115=
ENST00000473529.5:n.530C>G
ENST00000485531.1:n.835C>G
ENST00000487381.5:n.779C>G
ENST00000489643.6:n.283-267C>G
ENST00000554085.5:c.*138C>G	ENSP00000450419.1:n.*138C>G
ENST00000554139.5:n.573C>G
ENST00000554330.5:n.557C>G
ENST00000554550.5:c.*14C>G	ENSP00000451435.1:n.*14C>G
ENST00000554638.5:n.866C>G
ENST00000554897.5:c.*14C>G	ENSP00000450942.1:n.*14C>G
ENST00000554944.5:n.590C>G
ENST00000555020.5:n.550C>G
ENST00000555086.5:n.398C>G
ENST00000555214.5:n.262-200C>G
ENST00000556244.1:c.381C>G
ENST00000556278.1:c.253-267C>G	ENSP00000451792.1:n.253-267C>G
ENST00000556494.5:n.515C>G
ENST00000557541.5:n.538C>G
ENST00000557706.5:n.956C>G
NM_000155.3:c.394C>G	NP_000146.2:p.His132Asp
NM_001258332.1:c.67C>G	NP_001245261.1:p.His23Asp
NM_000155.4:c.394C>G MANE Select	NP_000146.2:p.His132Asp
NM_001258332.2:c.67C>G	NP_001245261.1:p.His23Asp