Canonical Allele Identifier: CA2838657998
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648479G>T , CM000671.2:g.34648479G>T GRCh38
NC_000009.11:g.34648476G>T , CM000671.1:g.34648476G>T GRCh37
NC_000009.10:g.34638476G>T NCBI36
NG_009029.1:g.6842G>T
NG_028966.1:g.1295G>T
NG_009029.2:g.6891G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*275+23G>T ENSP00000509954.1:n.*275+23G>T
ENST00000378842.8:c.687+23G>T MANE Select ENSP00000368119.4:n.687+23G>T
ENST00000378842.7:c.687+23G>T ENSP00000368119.3:n.687+23G>T
ENST00000450095.6:c.360+23G>T ENSP00000401956.2:n.360+23G>T
ENST00000472111.5:n.966G>T
ENST00000473506.6:c.*275+23G>T ENSP00000432839.2:n.*275+23G>T
ENST00000473529.5:n.846+23G>T
ENST00000487381.5:n.1095G>T
ENST00000489643.6:n.485G>T
ENST00000554085.5:c.*431+23G>T ENSP00000450419.1:n.*431+23G>T
ENST00000554550.5:c.*307+23G>T ENSP00000451435.1:n.*307+23G>T
ENST00000554638.5:n.1159+23G>T
ENST00000555020.5:n.866G>T
ENST00000555086.5:n.691+23G>T
ENST00000555214.5:n.531G>T
ENST00000555754.1:n.32+23G>T
ENST00000556244.1:c.674+23G>T
ENST00000556278.1:c.432+23G>T ENSP00000451792.1:n.432+23G>T
ENST00000556494.5:n.831G>T
ENST00000557706.5:n.1249+23G>T
NM_000155.3:c.687+23G>T NP_000146.2:n.687+23G>T
NM_001258332.1:c.360+23G>T NP_001245261.1:n.360+23G>T
NM_000155.4:c.687+23G>T MANE Select NP_000146.2:n.687+23G>T
NM_001258332.2:c.360+23G>T NP_001245261.1:n.360+23G>T