Canonical Allele Identifier: CA2689808623
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647588-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647588G>A , CM000671.2:g.34647588G>A GRCh38
NC_000009.11:g.34647585G>A , CM000671.1:g.34647585G>A GRCh37
NC_000009.10:g.34637585G>A NCBI36
NG_009029.1:g.5951G>A
NG_028966.1:g.404G>A
NG_009029.2:g.6000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+21G>A ENSP00000509954.1:n.328+21G>A
ENST00000378842.8:c.328+21G>A MANE Select ENSP00000368119.4:n.328+21G>A
ENST00000378842.7:c.328+21G>A ENSP00000368119.3:n.328+21G>A
ENST00000450095.6:c.51-244G>A ENSP00000401956.2:n.51-244G>A
ENST00000465543.6:n.667+21G>A
ENST00000472111.5:n.390G>A
ENST00000473506.6:c.279+21G>A ENSP00000432839.2:n.279+21G>A
ENST00000473529.5:n.396G>A
ENST00000485531.1:n.575G>A
ENST00000487381.5:n.587+21G>A
ENST00000489643.6:n.282+330G>A
ENST00000554085.5:c.*72+21G>A ENSP00000450419.1:n.*72+21G>A
ENST00000554139.5:n.381+21G>A
ENST00000554330.5:n.297G>A
ENST00000554550.5:c.253-244G>A ENSP00000451435.1:n.253-244G>A
ENST00000554638.5:n.606G>A
ENST00000554897.5:c.253-244G>A ENSP00000450942.1:n.253-244G>A
ENST00000554944.5:n.330G>A
ENST00000555020.5:n.358+21G>A
ENST00000555086.5:n.332+21G>A
ENST00000555214.5:n.261+330G>A
ENST00000556157.1:n.452+21G>A
ENST00000556244.1:c.315+21G>A
ENST00000556278.1:c.252+330G>A ENSP00000451792.1:n.252+330G>A
ENST00000556403.5:n.362G>A
ENST00000556494.5:n.381G>A
ENST00000557541.5:n.472+21G>A
ENST00000557706.5:n.696G>A
NM_000155.3:c.328+21G>A NP_000146.2:n.328+21G>A
NM_001258332.1:c.51-244G>A NP_001245261.1:n.51-244G>A
NM_000155.4:c.328+21G>A MANE Select NP_000146.2:n.328+21G>A
NM_001258332.2:c.51-244G>A NP_001245261.1:n.51-244G>A