Canonical Allele Identifier: CA2689808555
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647272-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647272G>A , CM000671.2:g.34647272G>A GRCh38
NC_000009.11:g.34647269G>A , CM000671.1:g.34647269G>A GRCh37
NC_000009.10:g.34637269G>A NCBI36
NG_009029.1:g.5635G>A
NG_028966.1:g.88G>A
NG_009029.2:g.5684G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.252+14G>A ENSP00000509954.1:n.252+14G>A
ENST00000378842.8:c.252+14G>A MANE Select ENSP00000368119.4:n.252+14G>A
ENST00000378842.7:c.252+14G>A ENSP00000368119.3:n.252+14G>A
ENST00000450095.6:c.50+14G>A ENSP00000401956.2:n.50+14G>A
ENST00000465543.6:n.591+14G>A
ENST00000468099.2:n.306G>A
ENST00000472111.5:n.293+14G>A
ENST00000473506.6:c.252+14G>A ENSP00000432839.2:n.252+14G>A
ENST00000473529.5:n.299+14G>A
ENST00000485531.1:n.259G>A
ENST00000487381.5:n.292G>A
ENST00000489643.6:n.282+14G>A
ENST00000554085.5:c.252+14G>A ENSP00000450419.1:n.252+14G>A
ENST00000554139.5:n.305+14G>A
ENST00000554330.5:n.249+14G>A
ENST00000554550.5:c.252+14G>A ENSP00000451435.1:n.252+14G>A
ENST00000554638.5:n.290G>A
ENST00000554897.5:c.252+14G>A ENSP00000450942.1:n.252+14G>A
ENST00000554944.5:n.282+14G>A
ENST00000555020.5:n.282+14G>A
ENST00000555086.5:n.256+14G>A
ENST00000555214.5:n.261+14G>A
ENST00000556157.1:n.359+14G>A
ENST00000556244.1:c.136+14G>A
ENST00000556278.1:c.252+14G>A ENSP00000451792.1:n.252+14G>A
ENST00000556403.5:n.265+14G>A
ENST00000556494.5:n.284+14G>A
ENST00000557541.5:n.445+14G>A
ENST00000557706.5:n.380G>A
NM_000155.3:c.252+14G>A NP_000146.2:n.252+14G>A
NM_001258332.1:c.50+14G>A NP_001245261.1:n.50+14G>A
NM_000155.4:c.252+14G>A MANE Select NP_000146.2:n.252+14G>A
NM_001258332.2:c.50+14G>A NP_001245261.1:n.50+14G>A