Canonical Allele Identifier: CA373278156
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646705A>T , CM000671.2:g.34646705A>T GRCh38
NC_000009.11:g.34646702A>T , CM000671.1:g.34646702A>T GRCh37
NC_000009.10:g.34636702A>T NCBI36
NG_009029.1:g.5068A>T
NG_009029.2:g.5117A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.1A>T ENSP00000509954.1:p.Met1Leu
ENST00000378842.8:c.1A>T MANE Select ENSP00000368119.4:p.Met1Leu
ENST00000378842.7:c.1A>T ENSP00000368119.3:p.Met1Leu
ENST00000450095.6:c.-202A>T ENSP00000401956.2:n.-202A>T
ENST00000465543.6:n.38A>T
ENST00000468099.2:n.73A>T
ENST00000472111.5:n.42A>T
ENST00000473506.6:c.1A>T ENSP00000432839.2:p.Met1Leu
ENST00000473529.5:n.48A>T
ENST00000487381.5:n.27A>T
ENST00000489643.6:n.31A>T
ENST00000554085.5:c.1A>T ENSP00000450419.1:p.Met1Leu
ENST00000554139.5:n.54A>T
ENST00000554550.5:c.1A>T ENSP00000451435.1:p.Met1Leu
ENST00000554638.5:n.25A>T
ENST00000554897.5:c.1A>T ENSP00000450942.1:p.Met1Leu
ENST00000554944.5:n.31A>T
ENST00000555020.5:n.31A>T
ENST00000555214.5:n.10A>T
ENST00000556278.1:c.1A>T ENSP00000451792.1:p.Met1Leu
ENST00000557541.5:n.61A>T
ENST00000605275.1:n.237A>T
NM_000155.3:c.1A>T NP_000146.2:p.Met1Leu
NM_001258332.1:c.-202A>T NP_001245261.1:n.-202A>T
NM_000155.4:c.1A>T MANE Select NP_000146.2:p.Met1Leu
NM_001258332.2:c.-202A>T NP_001245261.1:n.-202A>T