Canonical Allele Identifier: CA373278585
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1587237018

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647137T>G , CM000671.2:g.34647137T>G GRCh38
NC_000009.11:g.34647134T>G , CM000671.1:g.34647134T>G GRCh37
NC_000009.10:g.34637134T>G NCBI36
NG_009029.1:g.5500T>G
NG_009029.2:g.5549T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.131T>G ENSP00000509954.1:p.Val44Gly
ENST00000378842.8:c.131T>G MANE Select ENSP00000368119.4:p.Val44Gly
ENST00000378842.7:c.131T>G ENSP00000368119.3:p.Val44Gly
ENST00000450095.6:c.-72T>G ENSP00000401956.2:n.-72T>G
ENST00000465543.6:n.470T>G
ENST00000468099.2:n.171T>G
ENST00000472111.5:n.172T>G
ENST00000473506.6:c.131T>G ENSP00000432839.2:p.Val44Gly
ENST00000473529.5:n.178T>G
ENST00000485531.1:n.124T>G
ENST00000487381.5:n.157T>G
ENST00000489643.6:n.161T>G
ENST00000554085.5:c.131T>G ENSP00000450419.1:p.Val44Gly
ENST00000554139.5:n.184T>G
ENST00000554330.5:n.128T>G
ENST00000554550.5:c.131T>G ENSP00000451435.1:p.Val44Gly
ENST00000554638.5:n.155T>G
ENST00000554897.5:c.131T>G ENSP00000450942.1:p.Val44Gly
ENST00000554944.5:n.161T>G
ENST00000555020.5:n.161T>G
ENST00000555086.5:n.135T>G
ENST00000555214.5:n.140T>G
ENST00000556157.1:n.238T>G
ENST00000556244.1:c.15T>G
ENST00000556278.1:c.131T>G ENSP00000451792.1:p.Val44Gly
ENST00000556403.5:n.144T>G
ENST00000556494.5:n.163T>G
ENST00000557541.5:n.324T>G
ENST00000557706.5:n.245T>G
ENST00000605275.1:n.669T>G
NM_000155.3:c.131T>G NP_000146.2:p.Val44Gly
NM_001258332.1:c.-72T>G NP_001245261.1:n.-72T>G
NM_000155.4:c.131T>G MANE Select NP_000146.2:p.Val44Gly
NM_001258332.2:c.-72T>G NP_001245261.1:n.-72T>G