Canonical Allele Identifier: CA5036048
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs759875751
gnomAD v2: 9-34647294-G-A
gnomAD v3: 9-34647297-G-A
gnomAD v4: 9-34647297-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647297G>A , CM000671.2:g.34647297G>A GRCh38
NC_000009.11:g.34647294G>A , CM000671.1:g.34647294G>A GRCh37
NC_000009.10:g.34637294G>A NCBI36
NG_009029.1:g.5660G>A
NG_028966.1:g.113G>A
NG_009029.2:g.5709G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.252+39G>A ENSP00000509954.1:n.252+39G>A
ENST00000378842.8:c.252+39G>A MANE Select ENSP00000368119.4:n.252+39G>A
ENST00000378842.7:c.252+39G>A ENSP00000368119.3:n.252+39G>A
ENST00000450095.6:c.50+39G>A ENSP00000401956.2:n.50+39G>A
ENST00000465543.6:n.591+39G>A
ENST00000468099.2:n.331G>A
ENST00000472111.5:n.293+39G>A
ENST00000473506.6:c.252+39G>A ENSP00000432839.2:n.252+39G>A
ENST00000473529.5:n.299+39G>A
ENST00000485531.1:n.284G>A
ENST00000487381.5:n.317G>A
ENST00000489643.6:n.282+39G>A
ENST00000554085.5:c.252+39G>A ENSP00000450419.1:n.252+39G>A
ENST00000554139.5:n.305+39G>A
ENST00000554330.5:n.249+39G>A
ENST00000554550.5:c.252+39G>A ENSP00000451435.1:n.252+39G>A
ENST00000554638.5:n.315G>A
ENST00000554897.5:c.252+39G>A ENSP00000450942.1:n.252+39G>A
ENST00000554944.5:n.282+39G>A
ENST00000555020.5:n.282+39G>A
ENST00000555086.5:n.256+39G>A
ENST00000555214.5:n.261+39G>A
ENST00000556157.1:n.359+39G>A
ENST00000556244.1:c.136+39G>A
ENST00000556278.1:c.252+39G>A ENSP00000451792.1:n.252+39G>A
ENST00000556403.5:n.265+39G>A
ENST00000556494.5:n.284+39G>A
ENST00000557541.5:n.445+39G>A
ENST00000557706.5:n.405G>A
NM_000155.3:c.252+39G>A NP_000146.2:n.252+39G>A
NM_001258332.1:c.50+39G>A NP_001245261.1:n.50+39G>A
NM_000155.4:c.252+39G>A MANE Select NP_000146.2:n.252+39G>A
NM_001258332.2:c.50+39G>A NP_001245261.1:n.50+39G>A