Canonical Allele Identifier: CA1123156707
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1821118139
gnomAD v3: 9-34646978-A-G
gnomAD v4: 9-34646978-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646978A>G , CM000671.2:g.34646978A>G GRCh38
NC_000009.11:g.34646975A>G , CM000671.1:g.34646975A>G GRCh37
NC_000009.10:g.34636975A>G NCBI36
NG_009029.1:g.5341A>G
NG_009029.2:g.5390A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.83-111A>G ENSP00000509954.1:n.83-111A>G
ENST00000378842.8:c.83-111A>G MANE Select ENSP00000368119.4:n.83-111A>G
ENST00000378842.7:c.83-111A>G ENSP00000368119.3:n.83-111A>G
ENST00000450095.6:c.-120-111A>G ENSP00000401956.2:n.-120-111A>G
ENST00000465543.6:n.311A>G
ENST00000468099.2:n.155-143A>G
ENST00000472111.5:n.124-111A>G
ENST00000473506.6:c.83-111A>G ENSP00000432839.2:n.83-111A>G
ENST00000473529.5:n.130-111A>G
ENST00000485531.1:n.75+59A>G
ENST00000487381.5:n.109-111A>G
ENST00000489643.6:n.113-111A>G
ENST00000554085.5:c.83-111A>G ENSP00000450419.1:n.83-111A>G
ENST00000554139.5:n.136-111A>G
ENST00000554330.5:n.80-111A>G
ENST00000554550.5:c.83-111A>G ENSP00000451435.1:n.83-111A>G
ENST00000554638.5:n.107-111A>G
ENST00000554897.5:c.83-111A>G ENSP00000450942.1:n.83-111A>G
ENST00000554944.5:n.113-111A>G
ENST00000555020.5:n.113-111A>G
ENST00000555086.5:n.87-111A>G
ENST00000555214.5:n.92-111A>G
ENST00000556157.1:n.79A>G
ENST00000556278.1:c.83-111A>G ENSP00000451792.1:n.83-111A>G
ENST00000556403.5:n.96-111A>G
ENST00000556494.5:n.114+59A>G
ENST00000557541.5:n.275+59A>G
ENST00000557706.5:n.86A>G
ENST00000605275.1:n.510A>G
NM_000155.3:c.83-111A>G NP_000146.2:n.83-111A>G
NM_001258332.1:c.-120-111A>G NP_001245261.1:n.-120-111A>G
NM_000155.4:c.83-111A>G MANE Select NP_000146.2:n.83-111A>G
NM_001258332.2:c.-120-111A>G NP_001245261.1:n.-120-111A>G