Canonical Allele Identifier: CA464404523

Gene: GALT

Linked Data

• ClinVar Variation Id: 1117542
• ClinVar RCV Id: RCV001446325
• dbSNP Id: rs1821202634
• gnomAD v3: 9-34649543-G-A
• gnomAD v4: 9-34649543-G-A
• MyVariant Identifiers: chr9:g.34649540G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649543G>A , CM000671.2:g.34649543G>A	GRCh38
NC_000009.11:g.34649540G>A , CM000671.1:g.34649540G>A	GRCh37
NC_000009.10:g.34639540G>A	NCBI36
NG_009029.1:g.7906G>A
NG_028966.1:g.2359G>A
NG_009029.2:g.7955G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*626G>A	ENSP00000509954.1:n.*626G>A
ENST00000378842.8:c.1038G>A MANE Select	ENSP00000368119.4:p.Gln346=
ENST00000378842.7:c.1038G>A	ENSP00000368119.3:p.Gln346=
ENST00000450095.6:c.711G>A	ENSP00000401956.2:p.Gln237=
ENST00000488412.2:n.622G>A
ENST00000489643.6:n.1446G>A
ENST00000554550.5:c.*658G>A	ENSP00000451435.1:n.*658G>A
ENST00000554638.5:n.1510G>A
ENST00000555020.5:n.1827G>A
ENST00000555754.1:n.486G>A
ENST00000556278.1:c.432+1087G>A	ENSP00000451792.1:n.432+1087G>A
ENST00000557706.5:n.1613G>A
NM_000155.3:c.1038G>A	NP_000146.2:p.Gln346=
NM_001258332.1:c.711G>A	NP_001245261.1:p.Gln237=
NM_000155.4:c.1038G>A MANE Select	NP_000146.2:p.Gln346=
NM_001258332.2:c.711G>A	NP_001245261.1:p.Gln237=