Canonical Allele Identifier: CA2580080374

Gene: GALT

Linked Data

• ClinVar Variation Id: 1722333
• ClinVar RCV Id: RCV002302447
• gnomAD v4: 9-34647218-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647219dup , CM000671.2:g.34647219dup	GRCh38
NC_000009.11:g.34647216dup , CM000671.1:g.34647216dup	GRCh37
NC_000009.10:g.34637216dup	NCBI36
NG_009029.1:g.5582dup
NG_028966.1:g.35dup
NG_009029.2:g.5631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.213dup	ENSP00000509954.1:p.Asn72GlnfsTer20
ENST00000378842.8:c.213dup MANE Select	ENSP00000368119.4:p.Asn72GlnfsTer20
ENST00000378842.7:c.213dup	ENSP00000368119.3:p.Asn72GlnfsTer20
ENST00000450095.6:c.11dup	ENSP00000401956.2:p.Thr5AsnfsTer14
ENST00000465543.6:n.552dup
ENST00000468099.2:n.253dup
ENST00000472111.5:n.254dup
ENST00000473506.6:c.213dup	ENSP00000432839.2:p.Asn72GlnfsTer?
ENST00000473529.5:n.260dup
ENST00000485531.1:n.206dup
ENST00000487381.5:n.239dup
ENST00000489643.6:n.243dup
ENST00000554085.5:c.213dup	ENSP00000450419.1:p.Asn72GlnfsTer19
ENST00000554139.5:n.266dup
ENST00000554330.5:n.210dup
ENST00000554550.5:c.213dup	ENSP00000451435.1:p.Asn72GlnfsTer25
ENST00000554638.5:n.237dup
ENST00000554897.5:c.213dup	ENSP00000450942.1:p.Asn72GlnfsTer25
ENST00000554944.5:n.243dup
ENST00000555020.5:n.243dup
ENST00000555086.5:n.217dup
ENST00000555214.5:n.222dup
ENST00000556157.1:n.320dup
ENST00000556244.1:c.97dup
ENST00000556278.1:c.213dup	ENSP00000451792.1:p.Asn72GlnfsTer16
ENST00000556403.5:n.226dup
ENST00000556494.5:n.245dup
ENST00000557541.5:n.406dup
ENST00000557706.5:n.327dup
NM_000155.3:c.213dup	NP_000146.2:p.Asn72GlnfsTer20
NM_001258332.1:c.11dup	NP_001245261.1:p.Thr5AsnfsTer14
NM_000155.4:c.213dup MANE Select	NP_000146.2:p.Asn72GlnfsTer20
NM_001258332.2:c.11dup	NP_001245261.1:p.Thr5AsnfsTer14