Canonical Allele Identifier: CA373280411
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647689T>G , CM000671.2:g.34647689T>G GRCh38
NC_000009.11:g.34647686T>G , CM000671.1:g.34647686T>G GRCh37
NC_000009.10:g.34637686T>G NCBI36
NG_009029.1:g.6052T>G
NG_028966.1:g.505T>G
NG_009029.2:g.6101T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+122T>G ENSP00000509954.1:n.328+122T>G
ENST00000378842.8:c.361T>G MANE Select ENSP00000368119.4:p.Ser121Ala
ENST00000378842.7:c.361T>G ENSP00000368119.3:p.Ser121Ala
ENST00000450095.6:c.51-143T>G ENSP00000401956.2:n.51-143T>G
ENST00000465543.6:n.700T>G
ENST00000472111.5:n.491T>G
ENST00000473506.6:c.312T>G ENSP00000432839.2:p.Ser104Arg
ENST00000473529.5:n.497T>G
ENST00000485531.1:n.676T>G
ENST00000487381.5:n.620T>G
ENST00000489643.6:n.283-426T>G
ENST00000554085.5:c.*105T>G ENSP00000450419.1:n.*105T>G
ENST00000554139.5:n.414T>G
ENST00000554330.5:n.398T>G
ENST00000554550.5:c.253-143T>G ENSP00000451435.1:n.253-143T>G
ENST00000554638.5:n.707T>G
ENST00000554897.5:c.253-143T>G ENSP00000450942.1:n.253-143T>G
ENST00000554944.5:n.431T>G
ENST00000555020.5:n.391T>G
ENST00000555086.5:n.365T>G
ENST00000555214.5:n.262-359T>G
ENST00000556157.1:n.485T>G
ENST00000556244.1:c.348T>G
ENST00000556278.1:c.253-426T>G ENSP00000451792.1:n.253-426T>G
ENST00000556403.5:n.463T>G
ENST00000556494.5:n.482T>G
ENST00000557541.5:n.505T>G
ENST00000557706.5:n.797T>G
NM_000155.3:c.361T>G NP_000146.2:p.Ser121Ala
NM_001258332.1:c.51-143T>G NP_001245261.1:n.51-143T>G
NM_000155.4:c.361T>G MANE Select NP_000146.2:p.Ser121Ala
NM_001258332.2:c.51-143T>G NP_001245261.1:n.51-143T>G