Canonical Allele Identifier: CA913157566
Gene: GALT HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.34648114dup (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648117dup , CM000671.2:g.34648117dup GRCh38
NC_000009.11:g.34648114dup , CM000671.1:g.34648114dup GRCh37
NC_000009.10:g.34638114dup NCBI36
NG_009029.1:g.6480dup
NG_028966.1:g.933dup
NG_009029.2:g.6529dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*98dup ENSP00000509954.1:n.*98dup
ENST00000378842.8:c.510dup MANE Select ENSP00000368119.4:p.Phe171LeufsTer2
ENST00000378842.7:c.510dup ENSP00000368119.3:p.Phe171LeufsTer2
ENST00000450095.6:c.183dup ENSP00000401956.2:p.Phe62LeufsTer2
ENST00000465543.6:n.849dup
ENST00000472111.5:n.766dup
ENST00000473506.6:c.*98dup ENSP00000432839.2:n.*98dup
ENST00000473529.5:n.669dup
ENST00000485531.1:n.1104dup
ENST00000487381.5:n.895dup
ENST00000489643.6:n.285dup
ENST00000554085.5:c.*254dup ENSP00000450419.1:n.*254dup
ENST00000554139.5:n.756dup
ENST00000554550.5:c.*130dup ENSP00000451435.1:n.*130dup
ENST00000554638.5:n.982dup
ENST00000554897.5:c.*197dup ENSP00000450942.1:n.*197dup
ENST00000554944.5:n.859dup
ENST00000555020.5:n.666dup
ENST00000555086.5:n.514dup
ENST00000555214.5:n.331dup
ENST00000556244.1:c.497dup
ENST00000556278.1:c.255dup ENSP00000451792.1:p.Phe86LeufsTer2
ENST00000556494.5:n.631dup
ENST00000557706.5:n.1072dup
NM_000155.3:c.510dup NP_000146.2:p.Phe171LeufsTer2
NM_001258332.1:c.183dup NP_001245261.1:p.Phe62LeufsTer2
NM_000155.4:c.510dup MANE Select NP_000146.2:p.Phe171LeufsTer2
NM_001258332.2:c.183dup NP_001245261.1:p.Phe62LeufsTer2