Canonical Allele Identifier: CA2579371198
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647601-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647601G>A , CM000671.2:g.34647601G>A GRCh38
NC_000009.11:g.34647598G>A , CM000671.1:g.34647598G>A GRCh37
NC_000009.10:g.34637598G>A NCBI36
NG_009029.1:g.5964G>A
NG_028966.1:g.417G>A
NG_009029.2:g.6013G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+34G>A ENSP00000509954.1:n.328+34G>A
ENST00000378842.8:c.328+34G>A MANE Select ENSP00000368119.4:n.328+34G>A
ENST00000378842.7:c.328+34G>A ENSP00000368119.3:n.328+34G>A
ENST00000450095.6:c.51-231G>A ENSP00000401956.2:n.51-231G>A
ENST00000465543.6:n.667+34G>A
ENST00000472111.5:n.403G>A
ENST00000473506.6:c.279+34G>A ENSP00000432839.2:n.279+34G>A
ENST00000473529.5:n.409G>A
ENST00000485531.1:n.588G>A
ENST00000487381.5:n.587+34G>A
ENST00000489643.6:n.282+343G>A
ENST00000554085.5:c.*72+34G>A ENSP00000450419.1:n.*72+34G>A
ENST00000554139.5:n.381+34G>A
ENST00000554330.5:n.310G>A
ENST00000554550.5:c.253-231G>A ENSP00000451435.1:n.253-231G>A
ENST00000554638.5:n.619G>A
ENST00000554897.5:c.253-231G>A ENSP00000450942.1:n.253-231G>A
ENST00000554944.5:n.343G>A
ENST00000555020.5:n.358+34G>A
ENST00000555086.5:n.332+34G>A
ENST00000555214.5:n.261+343G>A
ENST00000556157.1:n.452+34G>A
ENST00000556244.1:c.315+34G>A
ENST00000556278.1:c.252+343G>A ENSP00000451792.1:n.252+343G>A
ENST00000556403.5:n.375G>A
ENST00000556494.5:n.394G>A
ENST00000557541.5:n.472+34G>A
ENST00000557706.5:n.709G>A
NM_000155.3:c.328+34G>A NP_000146.2:n.328+34G>A
NM_001258332.1:c.51-231G>A NP_001245261.1:n.51-231G>A
NM_000155.4:c.328+34G>A MANE Select NP_000146.2:n.328+34G>A
NM_001258332.2:c.51-231G>A NP_001245261.1:n.51-231G>A