Canonical Allele Identifier: CA587568393
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1334061275
gnomAD v2: 9-34648307-T-G
gnomAD v4: 9-34648310-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648310T>G , CM000671.2:g.34648310T>G GRCh38
NC_000009.11:g.34648307T>G , CM000671.1:g.34648307T>G GRCh37
NC_000009.10:g.34638307T>G NCBI36
NG_009029.1:g.6673T>G
NG_028966.1:g.1126T>G
NG_009029.2:g.6722T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*153-24T>G ENSP00000509954.1:n.*153-24T>G
ENST00000378842.8:c.565-24T>G MANE Select ENSP00000368119.4:n.565-24T>G
ENST00000378842.7:c.565-24T>G ENSP00000368119.3:n.565-24T>G
ENST00000450095.6:c.238-24T>G ENSP00000401956.2:n.238-24T>G
ENST00000472111.5:n.821-24T>G
ENST00000473506.6:c.*153-24T>G ENSP00000432839.2:n.*153-24T>G
ENST00000473529.5:n.724-24T>G
ENST00000485531.1:n.1159-24T>G
ENST00000487381.5:n.950-24T>G
ENST00000489643.6:n.340-24T>G
ENST00000554085.5:c.*309-24T>G ENSP00000450419.1:n.*309-24T>G
ENST00000554139.5:n.811-24T>G
ENST00000554550.5:c.*185-24T>G ENSP00000451435.1:n.*185-24T>G
ENST00000554638.5:n.1037-24T>G
ENST00000554897.5:c.*252-24T>G ENSP00000450942.1:n.*252-24T>G
ENST00000554944.5:n.914-24T>G
ENST00000555020.5:n.721-24T>G
ENST00000555086.5:n.569-24T>G
ENST00000555214.5:n.386-24T>G
ENST00000556244.1:c.552-24T>G
ENST00000556278.1:c.310-24T>G ENSP00000451792.1:n.310-24T>G
ENST00000556494.5:n.686-24T>G
ENST00000557706.5:n.1127-24T>G
NM_000155.3:c.565-24T>G NP_000146.2:n.565-24T>G
NM_001258332.1:c.238-24T>G NP_001245261.1:n.238-24T>G
NM_000155.4:c.565-24T>G MANE Select NP_000146.2:n.565-24T>G
NM_001258332.2:c.238-24T>G NP_001245261.1:n.238-24T>G