Canonical Allele Identifier: CA373280263
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647660C>T , CM000671.2:g.34647660C>T GRCh38
NC_000009.11:g.34647657C>T , CM000671.1:g.34647657C>T GRCh37
NC_000009.10:g.34637657C>T NCBI36
NG_009029.1:g.6023C>T
NG_028966.1:g.476C>T
NG_009029.2:g.6072C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+93C>T ENSP00000509954.1:n.328+93C>T
ENST00000378842.8:c.332C>T MANE Select ENSP00000368119.4:p.Pro111Leu
ENST00000378842.7:c.332C>T ENSP00000368119.3:p.Pro111Leu
ENST00000450095.6:c.51-172C>T ENSP00000401956.2:n.51-172C>T
ENST00000465543.6:n.671C>T
ENST00000472111.5:n.462C>T
ENST00000473506.6:c.283C>T ENSP00000432839.2:p.Pro95Ser
ENST00000473529.5:n.468C>T
ENST00000485531.1:n.647C>T
ENST00000487381.5:n.591C>T
ENST00000489643.6:n.282+402C>T
ENST00000554085.5:c.*76C>T ENSP00000450419.1:n.*76C>T
ENST00000554139.5:n.385C>T
ENST00000554330.5:n.369C>T
ENST00000554550.5:c.253-172C>T ENSP00000451435.1:n.253-172C>T
ENST00000554638.5:n.678C>T
ENST00000554897.5:c.253-172C>T ENSP00000450942.1:n.253-172C>T
ENST00000554944.5:n.402C>T
ENST00000555020.5:n.362C>T
ENST00000555086.5:n.336C>T
ENST00000555214.5:n.262-388C>T
ENST00000556157.1:n.456C>T
ENST00000556244.1:c.319C>T
ENST00000556278.1:c.252+402C>T ENSP00000451792.1:n.252+402C>T
ENST00000556403.5:n.434C>T
ENST00000556494.5:n.453C>T
ENST00000557541.5:n.476C>T
ENST00000557706.5:n.768C>T
NM_000155.3:c.332C>T NP_000146.2:p.Pro111Leu
NM_001258332.1:c.51-172C>T NP_001245261.1:n.51-172C>T
NM_000155.4:c.332C>T MANE Select NP_000146.2:p.Pro111Leu
NM_001258332.2:c.51-172C>T NP_001245261.1:n.51-172C>T