Canonical Allele Identifier: CA1845640147

Gene: GALT

Linked Data

• dbSNP Id: rs1821180587
• gnomAD v4: 9-34648921-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648921G>A , CM000671.2:g.34648921G>A	GRCh38
NC_000009.11:g.34648918G>A , CM000671.1:g.34648918G>A	GRCh37
NC_000009.10:g.34638918G>A	NCBI36
NG_009029.1:g.7284G>A
NG_028966.1:g.1737G>A
NG_009029.2:g.7333G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*408+27G>A	ENSP00000509954.1:n.*408+27G>A
ENST00000378842.8:c.820+27G>A MANE Select	ENSP00000368119.4:n.820+27G>A
ENST00000378842.7:c.820+27G>A	ENSP00000368119.3:n.820+27G>A
ENST00000450095.6:c.493+27G>A	ENSP00000401956.2:n.493+27G>A
ENST00000489643.6:n.900+27G>A
ENST00000554085.5:c.*564+27G>A	ENSP00000450419.1:n.*564+27G>A
ENST00000554550.5:c.*440+27G>A	ENSP00000451435.1:n.*440+27G>A
ENST00000554638.5:n.1292+27G>A
ENST00000555020.5:n.1281+27G>A
ENST00000555086.5:n.851G>A
ENST00000555754.1:n.192G>A
ENST00000556278.1:c.432+465G>A	ENSP00000451792.1:n.432+465G>A
ENST00000557706.5:n.1395+14G>A
NM_000155.3:c.820+27G>A	NP_000146.2:n.820+27G>A
NM_001258332.1:c.493+27G>A	NP_001245261.1:n.493+27G>A
NM_000155.4:c.820+27G>A MANE Select	NP_000146.2:n.820+27G>A
NM_001258332.2:c.493+27G>A	NP_001245261.1:n.493+27G>A