Canonical Allele Identifier: CA5036064
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs771530512
gnomAD v2: 9-34647421-T-G
gnomAD v4: 9-34647424-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647424T>G , CM000671.2:g.34647424T>G GRCh38
NC_000009.11:g.34647421T>G , CM000671.1:g.34647421T>G GRCh37
NC_000009.10:g.34637421T>G NCBI36
NG_009029.1:g.5787T>G
NG_028966.1:g.240T>G
NG_009029.2:g.5836T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.253-68T>G ENSP00000509954.1:n.253-68T>G
ENST00000378842.8:c.253-68T>G MANE Select ENSP00000368119.4:n.253-68T>G
ENST00000378842.7:c.253-68T>G ENSP00000368119.3:n.253-68T>G
ENST00000450095.6:c.50+166T>G ENSP00000401956.2:n.50+166T>G
ENST00000465543.6:n.592-68T>G
ENST00000468099.2:n.458T>G
ENST00000472111.5:n.294-68T>G
ENST00000473506.6:c.253-117T>G ENSP00000432839.2:n.253-117T>G
ENST00000473529.5:n.300-68T>G
ENST00000485531.1:n.411T>G
ENST00000487381.5:n.444T>G
ENST00000489643.6:n.282+166T>G
ENST00000554085.5:c.253-51T>G ENSP00000450419.1:n.253-51T>G
ENST00000554139.5:n.306-68T>G
ENST00000554330.5:n.250-117T>G
ENST00000554550.5:c.252+166T>G ENSP00000451435.1:n.252+166T>G
ENST00000554638.5:n.442T>G
ENST00000554897.5:c.252+166T>G ENSP00000450942.1:n.252+166T>G
ENST00000554944.5:n.283-117T>G
ENST00000555020.5:n.283-68T>G
ENST00000555086.5:n.257-68T>G
ENST00000555214.5:n.261+166T>G
ENST00000556157.1:n.360-51T>G
ENST00000556244.1:c.172T>G
ENST00000556278.1:c.252+166T>G ENSP00000451792.1:n.252+166T>G
ENST00000556403.5:n.266-68T>G
ENST00000556494.5:n.285-68T>G
ENST00000557541.5:n.446-117T>G
ENST00000557706.5:n.532T>G
NM_000155.3:c.253-68T>G NP_000146.2:n.253-68T>G
NM_001258332.1:c.50+166T>G NP_001245261.1:n.50+166T>G
NM_000155.4:c.253-68T>G MANE Select NP_000146.2:n.253-68T>G
NM_001258332.2:c.50+166T>G NP_001245261.1:n.50+166T>G