Canonical Allele Identifier: CA587243828
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1275557279
gnomAD v2: 9-34646816-G-A
gnomAD v4: 9-34646819-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646819G>A , CM000671.2:g.34646819G>A GRCh38
NC_000009.11:g.34646816G>A , CM000671.1:g.34646816G>A GRCh37
NC_000009.10:g.34636816G>A NCBI36
NG_009029.1:g.5182G>A
NG_009029.2:g.5231G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.82+33G>A ENSP00000509954.1:n.82+33G>A
ENST00000378842.8:c.82+33G>A MANE Select ENSP00000368119.4:n.82+33G>A
ENST00000378842.7:c.82+33G>A ENSP00000368119.3:n.82+33G>A
ENST00000450095.6:c.-121+33G>A ENSP00000401956.2:n.-121+33G>A
ENST00000465543.6:n.152G>A
ENST00000468099.2:n.154+33G>A
ENST00000472111.5:n.123+33G>A
ENST00000473506.6:c.82+33G>A ENSP00000432839.2:n.82+33G>A
ENST00000473529.5:n.129+33G>A
ENST00000487381.5:n.108+33G>A
ENST00000489643.6:n.112+33G>A
ENST00000554085.5:c.82+33G>A ENSP00000450419.1:n.82+33G>A
ENST00000554139.5:n.135+33G>A
ENST00000554330.5:n.31G>A
ENST00000554550.5:c.82+33G>A ENSP00000451435.1:n.82+33G>A
ENST00000554638.5:n.106+33G>A
ENST00000554897.5:c.82+33G>A ENSP00000450942.1:n.82+33G>A
ENST00000554944.5:n.112+33G>A
ENST00000555020.5:n.112+33G>A
ENST00000555086.5:n.38G>A
ENST00000555214.5:n.91+33G>A
ENST00000556278.1:c.82+33G>A ENSP00000451792.1:n.82+33G>A
ENST00000556403.5:n.47G>A
ENST00000556494.5:n.14G>A
ENST00000557541.5:n.175G>A
ENST00000605275.1:n.351G>A
NM_000155.3:c.82+33G>A NP_000146.2:n.82+33G>A
NM_001258332.1:c.-121+33G>A NP_001245261.1:n.-121+33G>A
NM_000155.4:c.82+33G>A MANE Select NP_000146.2:n.82+33G>A
NM_001258332.2:c.-121+33G>A NP_001245261.1:n.-121+33G>A