Canonical Allele Identifier: CA373278770
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647224C>G , CM000671.2:g.34647224C>G GRCh38
NC_000009.11:g.34647221C>G , CM000671.1:g.34647221C>G GRCh37
NC_000009.10:g.34637221C>G NCBI36
NG_009029.1:g.5587C>G
NG_028966.1:g.40C>G
NG_009029.2:g.5636C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.218C>G ENSP00000509954.1:p.Pro73Arg
ENST00000378842.8:c.218C>G MANE Select ENSP00000368119.4:p.Pro73Arg
ENST00000378842.7:c.218C>G ENSP00000368119.3:p.Pro73Arg
ENST00000450095.6:c.16C>G ENSP00000401956.2:p.Leu6Val
ENST00000465543.6:n.557C>G
ENST00000468099.2:n.258C>G
ENST00000472111.5:n.259C>G
ENST00000473506.6:c.218C>G ENSP00000432839.2:p.Pro73Arg
ENST00000473529.5:n.265C>G
ENST00000485531.1:n.211C>G
ENST00000487381.5:n.244C>G
ENST00000489643.6:n.248C>G
ENST00000554085.5:c.218C>G ENSP00000450419.1:p.Pro73Arg
ENST00000554139.5:n.271C>G
ENST00000554330.5:n.215C>G
ENST00000554550.5:c.218C>G ENSP00000451435.1:p.Pro73Arg
ENST00000554638.5:n.242C>G
ENST00000554897.5:c.218C>G ENSP00000450942.1:p.Pro73Arg
ENST00000554944.5:n.248C>G
ENST00000555020.5:n.248C>G
ENST00000555086.5:n.222C>G
ENST00000555214.5:n.227C>G
ENST00000556157.1:n.325C>G
ENST00000556244.1:c.102C>G
ENST00000556278.1:c.218C>G ENSP00000451792.1:p.Pro73Arg
ENST00000556403.5:n.231C>G
ENST00000556494.5:n.250C>G
ENST00000557541.5:n.411C>G
ENST00000557706.5:n.332C>G
NM_000155.3:c.218C>G NP_000146.2:p.Pro73Arg
NM_001258332.1:c.16C>G NP_001245261.1:p.Leu6Val
NM_000155.4:c.218C>G MANE Select NP_000146.2:p.Pro73Arg
NM_001258332.2:c.16C>G NP_001245261.1:p.Leu6Val