Canonical Allele Identifier: CA2689808489
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34646932-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646932G>C , CM000671.2:g.34646932G>C GRCh38
NC_000009.11:g.34646929G>C , CM000671.1:g.34646929G>C GRCh37
NC_000009.10:g.34636929G>C NCBI36
NG_009029.1:g.5295G>C
NG_009029.2:g.5344G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.82+146G>C ENSP00000509954.1:n.82+146G>C
ENST00000378842.8:c.82+146G>C MANE Select ENSP00000368119.4:n.82+146G>C
ENST00000378842.7:c.82+146G>C ENSP00000368119.3:n.82+146G>C
ENST00000450095.6:c.-121+146G>C ENSP00000401956.2:n.-121+146G>C
ENST00000465543.6:n.265G>C
ENST00000468099.2:n.154+146G>C
ENST00000472111.5:n.123+146G>C
ENST00000473506.6:c.82+146G>C ENSP00000432839.2:n.82+146G>C
ENST00000473529.5:n.129+146G>C
ENST00000485531.1:n.75+13G>C
ENST00000487381.5:n.108+146G>C
ENST00000489643.6:n.112+146G>C
ENST00000554085.5:c.82+146G>C ENSP00000450419.1:n.82+146G>C
ENST00000554139.5:n.135+146G>C
ENST00000554330.5:n.79+65G>C
ENST00000554550.5:c.82+146G>C ENSP00000451435.1:n.82+146G>C
ENST00000554638.5:n.106+146G>C
ENST00000554897.5:c.82+146G>C ENSP00000450942.1:n.82+146G>C
ENST00000554944.5:n.112+146G>C
ENST00000555020.5:n.112+146G>C
ENST00000555086.5:n.86+65G>C
ENST00000555214.5:n.91+146G>C
ENST00000556157.1:n.33G>C
ENST00000556278.1:c.82+146G>C ENSP00000451792.1:n.82+146G>C
ENST00000556403.5:n.95+65G>C
ENST00000556494.5:n.114+13G>C
ENST00000557541.5:n.275+13G>C
ENST00000557706.5:n.40G>C
ENST00000605275.1:n.464G>C
NM_000155.3:c.82+146G>C NP_000146.2:n.82+146G>C
NM_001258332.1:c.-121+146G>C NP_001245261.1:n.-121+146G>C
NM_000155.4:c.82+146G>C MANE Select NP_000146.2:n.82+146G>C
NM_001258332.2:c.-121+146G>C NP_001245261.1:n.-121+146G>C