Canonical Allele Identifier: CA2689808589
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647369-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647369C>G , CM000671.2:g.34647369C>G GRCh38
NC_000009.11:g.34647366C>G , CM000671.1:g.34647366C>G GRCh37
NC_000009.10:g.34637366C>G NCBI36
NG_009029.1:g.5732C>G
NG_028966.1:g.185C>G
NG_009029.2:g.5781C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.252+111C>G ENSP00000509954.1:n.252+111C>G
ENST00000378842.8:c.252+111C>G MANE Select ENSP00000368119.4:n.252+111C>G
ENST00000378842.7:c.252+111C>G ENSP00000368119.3:n.252+111C>G
ENST00000450095.6:c.50+111C>G ENSP00000401956.2:n.50+111C>G
ENST00000465543.6:n.591+111C>G
ENST00000468099.2:n.403C>G
ENST00000472111.5:n.293+111C>G
ENST00000473506.6:c.252+111C>G ENSP00000432839.2:n.252+111C>G
ENST00000473529.5:n.299+111C>G
ENST00000485531.1:n.356C>G
ENST00000487381.5:n.389C>G
ENST00000489643.6:n.282+111C>G
ENST00000554085.5:c.253-106C>G ENSP00000450419.1:n.253-106C>G
ENST00000554139.5:n.305+111C>G
ENST00000554330.5:n.249+111C>G
ENST00000554550.5:c.252+111C>G ENSP00000451435.1:n.252+111C>G
ENST00000554638.5:n.387C>G
ENST00000554897.5:c.252+111C>G ENSP00000450942.1:n.252+111C>G
ENST00000554944.5:n.282+111C>G
ENST00000555020.5:n.282+111C>G
ENST00000555086.5:n.256+111C>G
ENST00000555214.5:n.261+111C>G
ENST00000556157.1:n.360-106C>G
ENST00000556244.1:c.137-20C>G
ENST00000556278.1:c.252+111C>G ENSP00000451792.1:n.252+111C>G
ENST00000556403.5:n.265+111C>G
ENST00000556494.5:n.284+111C>G
ENST00000557541.5:n.445+111C>G
ENST00000557706.5:n.477C>G
NM_000155.3:c.252+111C>G NP_000146.2:n.252+111C>G
NM_001258332.1:c.50+111C>G NP_001245261.1:n.50+111C>G
NM_000155.4:c.252+111C>G MANE Select NP_000146.2:n.252+111C>G
NM_001258332.2:c.50+111C>G NP_001245261.1:n.50+111C>G