Canonical Allele Identifier: CA373278629
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647160C>G , CM000671.2:g.34647160C>G GRCh38
NC_000009.11:g.34647157C>G , CM000671.1:g.34647157C>G GRCh37
NC_000009.10:g.34637157C>G NCBI36
NG_009029.1:g.5523C>G
NG_009029.2:g.5572C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.154C>G ENSP00000509954.1:p.Pro52Ala
ENST00000378842.8:c.154C>G MANE Select ENSP00000368119.4:p.Pro52Ala
ENST00000378842.7:c.154C>G ENSP00000368119.3:p.Pro52Ala
ENST00000450095.6:c.-49C>G ENSP00000401956.2:n.-49C>G
ENST00000465543.6:n.493C>G
ENST00000468099.2:n.194C>G
ENST00000472111.5:n.195C>G
ENST00000473506.6:c.154C>G ENSP00000432839.2:p.Pro52Ala
ENST00000473529.5:n.201C>G
ENST00000485531.1:n.147C>G
ENST00000487381.5:n.180C>G
ENST00000489643.6:n.184C>G
ENST00000554085.5:c.154C>G ENSP00000450419.1:p.Pro52Ala
ENST00000554139.5:n.207C>G
ENST00000554330.5:n.151C>G
ENST00000554550.5:c.154C>G ENSP00000451435.1:p.Pro52Ala
ENST00000554638.5:n.178C>G
ENST00000554897.5:c.154C>G ENSP00000450942.1:p.Pro52Ala
ENST00000554944.5:n.184C>G
ENST00000555020.5:n.184C>G
ENST00000555086.5:n.158C>G
ENST00000555214.5:n.163C>G
ENST00000556157.1:n.261C>G
ENST00000556244.1:c.38C>G
ENST00000556278.1:c.154C>G ENSP00000451792.1:p.Pro52Ala
ENST00000556403.5:n.167C>G
ENST00000556494.5:n.186C>G
ENST00000557541.5:n.347C>G
ENST00000557706.5:n.268C>G
NM_000155.3:c.154C>G NP_000146.2:p.Pro52Ala
NM_001258332.1:c.-49C>G NP_001245261.1:n.-49C>G
NM_000155.4:c.154C>G MANE Select NP_000146.2:p.Pro52Ala
NM_001258332.2:c.-49C>G NP_001245261.1:n.-49C>G