Canonical Allele Identifier: CA2689809039
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648468-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648468C>G , CM000671.2:g.34648468C>G GRCh38
NC_000009.11:g.34648465C>G , CM000671.1:g.34648465C>G GRCh37
NC_000009.10:g.34638465C>G NCBI36
NG_009029.1:g.6831C>G
NG_028966.1:g.1284C>G
NG_009029.2:g.6880C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*275+12C>G ENSP00000509954.1:n.*275+12C>G
ENST00000378842.8:c.687+12C>G MANE Select ENSP00000368119.4:n.687+12C>G
ENST00000378842.7:c.687+12C>G ENSP00000368119.3:n.687+12C>G
ENST00000450095.6:c.360+12C>G ENSP00000401956.2:n.360+12C>G
ENST00000472111.5:n.955C>G
ENST00000473506.6:c.*275+12C>G ENSP00000432839.2:n.*275+12C>G
ENST00000473529.5:n.846+12C>G
ENST00000487381.5:n.1084C>G
ENST00000489643.6:n.474C>G
ENST00000554085.5:c.*431+12C>G ENSP00000450419.1:n.*431+12C>G
ENST00000554550.5:c.*307+12C>G ENSP00000451435.1:n.*307+12C>G
ENST00000554638.5:n.1159+12C>G
ENST00000555020.5:n.855C>G
ENST00000555086.5:n.691+12C>G
ENST00000555214.5:n.520C>G
ENST00000555754.1:n.32+12C>G
ENST00000556244.1:c.674+12C>G
ENST00000556278.1:c.432+12C>G ENSP00000451792.1:n.432+12C>G
ENST00000556494.5:n.820C>G
ENST00000557706.5:n.1249+12C>G
NM_000155.3:c.687+12C>G NP_000146.2:n.687+12C>G
NM_001258332.1:c.360+12C>G NP_001245261.1:n.360+12C>G
NM_000155.4:c.687+12C>G MANE Select NP_000146.2:n.687+12C>G
NM_001258332.2:c.360+12C>G NP_001245261.1:n.360+12C>G