Canonical Allele Identifier: CA373278804
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647232C>G , CM000671.2:g.34647232C>G GRCh38
NC_000009.11:g.34647229C>G , CM000671.1:g.34647229C>G GRCh37
NC_000009.10:g.34637229C>G NCBI36
NG_009029.1:g.5595C>G
NG_028966.1:g.48C>G
NG_009029.2:g.5644C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.226C>G ENSP00000509954.1:p.Pro76Ala
ENST00000378842.8:c.226C>G MANE Select ENSP00000368119.4:p.Pro76Ala
ENST00000378842.7:c.226C>G ENSP00000368119.3:p.Pro76Ala
ENST00000450095.6:c.24C>G ENSP00000401956.2:p.Val8=
ENST00000465543.6:n.565C>G
ENST00000468099.2:n.266C>G
ENST00000472111.5:n.267C>G
ENST00000473506.6:c.226C>G ENSP00000432839.2:p.Pro76Ala
ENST00000473529.5:n.273C>G
ENST00000485531.1:n.219C>G
ENST00000487381.5:n.252C>G
ENST00000489643.6:n.256C>G
ENST00000554085.5:c.226C>G ENSP00000450419.1:p.Pro76Ala
ENST00000554139.5:n.279C>G
ENST00000554330.5:n.223C>G
ENST00000554550.5:c.226C>G ENSP00000451435.1:p.Pro76Ala
ENST00000554638.5:n.250C>G
ENST00000554897.5:c.226C>G ENSP00000450942.1:p.Pro76Ala
ENST00000554944.5:n.256C>G
ENST00000555020.5:n.256C>G
ENST00000555086.5:n.230C>G
ENST00000555214.5:n.235C>G
ENST00000556157.1:n.333C>G
ENST00000556244.1:c.110C>G
ENST00000556278.1:c.226C>G ENSP00000451792.1:p.Pro76Ala
ENST00000556403.5:n.239C>G
ENST00000556494.5:n.258C>G
ENST00000557541.5:n.419C>G
ENST00000557706.5:n.340C>G
NM_000155.3:c.226C>G NP_000146.2:p.Pro76Ala
NM_001258332.1:c.24C>G NP_001245261.1:p.Val8=
NM_000155.4:c.226C>G MANE Select NP_000146.2:p.Pro76Ala
NM_001258332.2:c.24C>G NP_001245261.1:p.Val8=