Canonical Allele Identifier: CA259386
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs397515628
gnomAD v4: 9-34647863-G-GT
MyVariant Identifiers: chr9:g.34647861dupT (hg19) chr9:g.34647864dupT (hg38)
PubMed: PMID:15841485
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647864dup , CM000671.2:g.34647864dup GRCh38
NC_000009.11:g.34647861dup , CM000671.1:g.34647861dup GRCh37
NC_000009.10:g.34637861dup NCBI36
NG_009029.1:g.6227dup
NG_028966.1:g.680dup
NG_009029.2:g.6276dup

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.361dup ENSP00000509954.1:p.Ter121LeuextTer?
ENST00000378842.8:c.410dup MANE Select ENSP00000368119.4:p.Thr138AsnfsTer9
ENST00000378842.7:c.410dup ENSP00000368119.3:p.Thr138AsnfsTer9
ENST00000450095.6:c.83dup ENSP00000401956.2:p.Thr29AsnfsTer9
ENST00000465543.6:n.749dup
ENST00000472111.5:n.666dup
ENST00000473506.6:c.361dup ENSP00000432839.2:p.Ter121LeuextTer?
ENST00000473529.5:n.546dup
ENST00000485531.1:n.851dup
ENST00000487381.5:n.795dup
ENST00000489643.6:n.283-251dup
ENST00000554085.5:c.*154dup ENSP00000450419.1:n.*154dup
ENST00000554139.5:n.589dup
ENST00000554550.5:c.*30dup ENSP00000451435.1:n.*30dup
ENST00000554638.5:n.882dup
ENST00000554897.5:c.*30dup ENSP00000450942.1:n.*30dup
ENST00000554944.5:n.606dup
ENST00000555020.5:n.566dup
ENST00000555086.5:n.414dup
ENST00000555214.5:n.262-184dup
ENST00000556244.1:c.397dup
ENST00000556278.1:c.253-251dup ENSP00000451792.1:n.253-251dup
ENST00000556494.5:n.531dup
ENST00000557541.5:n.554dup
ENST00000557706.5:n.972dup
NM_000155.3:c.410dup NP_000146.2:p.Thr138AsnfsTer9
NM_001258332.1:c.83dup NP_001245261.1:p.Thr29AsnfsTer9
NM_000155.4:c.410dup MANE Select NP_000146.2:p.Thr138AsnfsTer9
NM_001258332.2:c.83dup NP_001245261.1:p.Thr29AsnfsTer9
Search 100 bp 5'
Search 100 bp 3'