Canonical Allele Identifier: CA2689809036
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648467-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648467G>T , CM000671.2:g.34648467G>T GRCh38
NC_000009.11:g.34648464G>T , CM000671.1:g.34648464G>T GRCh37
NC_000009.10:g.34638464G>T NCBI36
NG_009029.1:g.6830G>T
NG_028966.1:g.1283G>T
NG_009029.2:g.6879G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*275+11G>T ENSP00000509954.1:n.*275+11G>T
ENST00000378842.8:c.687+11G>T MANE Select ENSP00000368119.4:n.687+11G>T
ENST00000378842.7:c.687+11G>T ENSP00000368119.3:n.687+11G>T
ENST00000450095.6:c.360+11G>T ENSP00000401956.2:n.360+11G>T
ENST00000472111.5:n.954G>T
ENST00000473506.6:c.*275+11G>T ENSP00000432839.2:n.*275+11G>T
ENST00000473529.5:n.846+11G>T
ENST00000487381.5:n.1083G>T
ENST00000489643.6:n.473G>T
ENST00000554085.5:c.*431+11G>T ENSP00000450419.1:n.*431+11G>T
ENST00000554550.5:c.*307+11G>T ENSP00000451435.1:n.*307+11G>T
ENST00000554638.5:n.1159+11G>T
ENST00000555020.5:n.854G>T
ENST00000555086.5:n.691+11G>T
ENST00000555214.5:n.519G>T
ENST00000555754.1:n.32+11G>T
ENST00000556244.1:c.674+11G>T
ENST00000556278.1:c.432+11G>T ENSP00000451792.1:n.432+11G>T
ENST00000556494.5:n.819G>T
ENST00000557706.5:n.1249+11G>T
NM_000155.3:c.687+11G>T NP_000146.2:n.687+11G>T
NM_001258332.1:c.360+11G>T NP_001245261.1:n.360+11G>T
NM_000155.4:c.687+11G>T MANE Select NP_000146.2:n.687+11G>T
NM_001258332.2:c.360+11G>T NP_001245261.1:n.360+11G>T