Canonical Allele Identifier: CA587568381

Gene: GALT

Linked Data

• dbSNP Id: rs1473388542
• gnomAD v2: 9-34648896-G-A
• gnomAD v4: 9-34648899-G-A
• MyVariant Identifiers: chr9:g.34648896G>A (hg19) ; chr9:g.34648899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648899G>A , CM000671.2:g.34648899G>A	GRCh38
NC_000009.11:g.34648896G>A , CM000671.1:g.34648896G>A	GRCh37
NC_000009.10:g.34638896G>A	NCBI36
NG_009029.1:g.7262G>A
NG_028966.1:g.1715G>A
NG_009029.2:g.7311G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*408+5G>A	ENSP00000509954.1:n.*408+5G>A
ENST00000378842.8:c.820+5G>A MANE Select	ENSP00000368119.4:n.820+5G>A
ENST00000378842.7:c.820+5G>A	ENSP00000368119.3:n.820+5G>A
ENST00000450095.6:c.493+5G>A	ENSP00000401956.2:n.493+5G>A
ENST00000489643.6:n.900+5G>A
ENST00000554085.5:c.*564+5G>A	ENSP00000450419.1:n.*564+5G>A
ENST00000554550.5:c.*440+5G>A	ENSP00000451435.1:n.*440+5G>A
ENST00000554638.5:n.1292+5G>A
ENST00000555020.5:n.1281+5G>A
ENST00000555086.5:n.829G>A
ENST00000555754.1:n.170G>A
ENST00000556278.1:c.432+443G>A	ENSP00000451792.1:n.432+443G>A
ENST00000557706.5:n.1387G>A
NM_000155.3:c.820+5G>A	NP_000146.2:n.820+5G>A
NM_001258332.1:c.493+5G>A	NP_001245261.1:n.493+5G>A
NM_000155.4:c.820+5G>A MANE Select	NP_000146.2:n.820+5G>A
NM_001258332.2:c.493+5G>A	NP_001245261.1:n.493+5G>A