Canonical Allele Identifier: CA373278820
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647235G>T , CM000671.2:g.34647235G>T GRCh38
NC_000009.11:g.34647232G>T , CM000671.1:g.34647232G>T GRCh37
NC_000009.10:g.34637232G>T NCBI36
NG_009029.1:g.5598G>T
NG_028966.1:g.51G>T
NG_009029.2:g.5647G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.229G>T ENSP00000509954.1:p.Gly77Trp
ENST00000378842.8:c.229G>T MANE Select ENSP00000368119.4:p.Gly77Trp
ENST00000378842.7:c.229G>T ENSP00000368119.3:p.Gly77Trp
ENST00000450095.6:c.27G>T ENSP00000401956.2:p.Leu9=
ENST00000465543.6:n.568G>T
ENST00000468099.2:n.269G>T
ENST00000472111.5:n.270G>T
ENST00000473506.6:c.229G>T ENSP00000432839.2:p.Gly77Trp
ENST00000473529.5:n.276G>T
ENST00000485531.1:n.222G>T
ENST00000487381.5:n.255G>T
ENST00000489643.6:n.259G>T
ENST00000554085.5:c.229G>T ENSP00000450419.1:p.Gly77Trp
ENST00000554139.5:n.282G>T
ENST00000554330.5:n.226G>T
ENST00000554550.5:c.229G>T ENSP00000451435.1:p.Gly77Trp
ENST00000554638.5:n.253G>T
ENST00000554897.5:c.229G>T ENSP00000450942.1:p.Gly77Trp
ENST00000554944.5:n.259G>T
ENST00000555020.5:n.259G>T
ENST00000555086.5:n.233G>T
ENST00000555214.5:n.238G>T
ENST00000556157.1:n.336G>T
ENST00000556244.1:c.113G>T
ENST00000556278.1:c.229G>T ENSP00000451792.1:p.Gly77Trp
ENST00000556403.5:n.242G>T
ENST00000556494.5:n.261G>T
ENST00000557541.5:n.422G>T
ENST00000557706.5:n.343G>T
NM_000155.3:c.229G>T NP_000146.2:p.Gly77Trp
NM_001258332.1:c.27G>T NP_001245261.1:p.Leu9=
NM_000155.4:c.229G>T MANE Select NP_000146.2:p.Gly77Trp
NM_001258332.2:c.27G>T NP_001245261.1:p.Leu9=