Canonical Allele Identifier: CA1845634752

Gene: GALT

Linked Data

• ClinVar Variation Id: 1355405
• ClinVar RCV Id: RCV001866904
• dbSNP Id: rs1821111380
• gnomAD v4: 9-34646744-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646744_34646745insT , CM000671.2:g.34646744_34646745insT	GRCh38
NC_000009.11:g.34646741_34646742insT , CM000671.1:g.34646741_34646742insT	GRCh37
NC_000009.10:g.34636741_34636742insT	NCBI36
NG_009029.1:g.5107_5108insT
NG_009029.2:g.5156_5157insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.40_41insT	ENSP00000509954.1:p.Ala14ValfsTer27
ENST00000378842.8:c.40_41insT MANE Select	ENSP00000368119.4:p.Ala14ValfsTer27
ENST00000378842.7:c.40_41insT	ENSP00000368119.3:p.Ala14ValfsTer27
ENST00000450095.6:c.-163_-162insT	ENSP00000401956.2:n.-163_-162insT
ENST00000465543.6:n.77_78insT
ENST00000468099.2:n.112_113insT
ENST00000472111.5:n.81_82insT
ENST00000473506.6:c.40_41insT	ENSP00000432839.2:p.Ala14ValfsTer27
ENST00000473529.5:n.87_88insT
ENST00000487381.5:n.66_67insT
ENST00000489643.6:n.70_71insT
ENST00000554085.5:c.40_41insT	ENSP00000450419.1:p.Ala14ValfsTer27
ENST00000554139.5:n.93_94insT
ENST00000554550.5:c.40_41insT	ENSP00000451435.1:p.Ala14ValfsTer27
ENST00000554638.5:n.64_65insT
ENST00000554897.5:c.40_41insT	ENSP00000450942.1:p.Ala14ValfsTer27
ENST00000554944.5:n.70_71insT
ENST00000555020.5:n.70_71insT
ENST00000555214.5:n.49_50insT
ENST00000556278.1:c.40_41insT	ENSP00000451792.1:p.Ala14ValfsTer27
ENST00000557541.5:n.100_101insT
ENST00000605275.1:n.276_277insT
NM_000155.3:c.40_41insT	NP_000146.2:p.Ala14ValfsTer27
NM_001258332.1:c.-163_-162insT	NP_001245261.1:n.-163_-162insT
NM_000155.4:c.40_41insT MANE Select	NP_000146.2:p.Ala14ValfsTer27
NM_001258332.2:c.-163_-162insT	NP_001245261.1:n.-163_-162insT