Canonical Allele Identifier: CA373280330
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647672C>A , CM000671.2:g.34647672C>A GRCh38
NC_000009.11:g.34647669C>A , CM000671.1:g.34647669C>A GRCh37
NC_000009.10:g.34637669C>A NCBI36
NG_009029.1:g.6035C>A
NG_028966.1:g.488C>A
NG_009029.2:g.6084C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+105C>A ENSP00000509954.1:n.328+105C>A
ENST00000378842.8:c.344C>A MANE Select ENSP00000368119.4:p.Pro115His
ENST00000378842.7:c.344C>A ENSP00000368119.3:p.Pro115His
ENST00000450095.6:c.51-160C>A ENSP00000401956.2:n.51-160C>A
ENST00000465543.6:n.683C>A
ENST00000472111.5:n.474C>A
ENST00000473506.6:c.295C>A ENSP00000432839.2:p.Pro99Thr
ENST00000473529.5:n.480C>A
ENST00000485531.1:n.659C>A
ENST00000487381.5:n.603C>A
ENST00000489643.6:n.282+414C>A
ENST00000554085.5:c.*88C>A ENSP00000450419.1:n.*88C>A
ENST00000554139.5:n.397C>A
ENST00000554330.5:n.381C>A
ENST00000554550.5:c.253-160C>A ENSP00000451435.1:n.253-160C>A
ENST00000554638.5:n.690C>A
ENST00000554897.5:c.253-160C>A ENSP00000450942.1:n.253-160C>A
ENST00000554944.5:n.414C>A
ENST00000555020.5:n.374C>A
ENST00000555086.5:n.348C>A
ENST00000555214.5:n.262-376C>A
ENST00000556157.1:n.468C>A
ENST00000556244.1:c.331C>A
ENST00000556278.1:c.252+414C>A ENSP00000451792.1:n.252+414C>A
ENST00000556403.5:n.446C>A
ENST00000556494.5:n.465C>A
ENST00000557541.5:n.488C>A
ENST00000557706.5:n.780C>A
NM_000155.3:c.344C>A NP_000146.2:p.Pro115His
NM_001258332.1:c.51-160C>A NP_001245261.1:n.51-160C>A
NM_000155.4:c.344C>A MANE Select NP_000146.2:p.Pro115His
NM_001258332.2:c.51-160C>A NP_001245261.1:n.51-160C>A