Canonical Allele Identifier: CA1845636050
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1821132706
gnomAD v4: 9-34647453-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647453A>G , CM000671.2:g.34647453A>G GRCh38
NC_000009.11:g.34647450A>G , CM000671.1:g.34647450A>G GRCh37
NC_000009.10:g.34637450A>G NCBI36
NG_009029.1:g.5816A>G
NG_028966.1:g.269A>G
NG_009029.2:g.5865A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.253-39A>G ENSP00000509954.1:n.253-39A>G
ENST00000378842.8:c.253-39A>G MANE Select ENSP00000368119.4:n.253-39A>G
ENST00000378842.7:c.253-39A>G ENSP00000368119.3:n.253-39A>G
ENST00000450095.6:c.50+195A>G ENSP00000401956.2:n.50+195A>G
ENST00000465543.6:n.592-39A>G
ENST00000468099.2:n.487A>G
ENST00000472111.5:n.294-39A>G
ENST00000473506.6:c.253-88A>G ENSP00000432839.2:n.253-88A>G
ENST00000473529.5:n.300-39A>G
ENST00000485531.1:n.440A>G
ENST00000487381.5:n.473A>G
ENST00000489643.6:n.282+195A>G
ENST00000554085.5:c.253-22A>G ENSP00000450419.1:n.253-22A>G
ENST00000554139.5:n.306-39A>G
ENST00000554330.5:n.250-88A>G
ENST00000554550.5:c.252+195A>G ENSP00000451435.1:n.252+195A>G
ENST00000554638.5:n.471A>G
ENST00000554897.5:c.252+195A>G ENSP00000450942.1:n.252+195A>G
ENST00000554944.5:n.283-88A>G
ENST00000555020.5:n.283-39A>G
ENST00000555086.5:n.257-39A>G
ENST00000555214.5:n.261+195A>G
ENST00000556157.1:n.360-22A>G
ENST00000556244.1:c.201A>G
ENST00000556278.1:c.252+195A>G ENSP00000451792.1:n.252+195A>G
ENST00000556403.5:n.266-39A>G
ENST00000556494.5:n.285-39A>G
ENST00000557541.5:n.446-88A>G
ENST00000557706.5:n.561A>G
NM_000155.3:c.253-39A>G NP_000146.2:n.253-39A>G
NM_001258332.1:c.50+195A>G NP_001245261.1:n.50+195A>G
NM_000155.4:c.253-39A>G MANE Select NP_000146.2:n.253-39A>G
NM_001258332.2:c.50+195A>G NP_001245261.1:n.50+195A>G