Canonical Allele Identifier: CA587243840

Gene: GALT

Linked Data

• dbSNP Id: rs1168098617
• gnomAD v2: 9-34646834-C-A
• gnomAD v4: 9-34646837-C-A
• MyVariant Identifiers: chr9:g.34646834C>A (hg19) ; chr9:g.34646837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34646837C>A , CM000671.2:g.34646837C>A	GRCh38
NC_000009.11:g.34646834C>A , CM000671.1:g.34646834C>A	GRCh37
NC_000009.10:g.34636834C>A	NCBI36
NG_009029.1:g.5200C>A
NG_009029.2:g.5249C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.82+51C>A	ENSP00000509954.1:n.82+51C>A
ENST00000378842.8:c.82+51C>A MANE Select	ENSP00000368119.4:n.82+51C>A
ENST00000378842.7:c.82+51C>A	ENSP00000368119.3:n.82+51C>A
ENST00000450095.6:c.-121+51C>A	ENSP00000401956.2:n.-121+51C>A
ENST00000465543.6:n.170C>A
ENST00000468099.2:n.154+51C>A
ENST00000472111.5:n.123+51C>A
ENST00000473506.6:c.82+51C>A	ENSP00000432839.2:n.82+51C>A
ENST00000473529.5:n.129+51C>A
ENST00000487381.5:n.108+51C>A
ENST00000489643.6:n.112+51C>A
ENST00000554085.5:c.82+51C>A	ENSP00000450419.1:n.82+51C>A
ENST00000554139.5:n.135+51C>A
ENST00000554330.5:n.49C>A
ENST00000554550.5:c.82+51C>A	ENSP00000451435.1:n.82+51C>A
ENST00000554638.5:n.106+51C>A
ENST00000554897.5:c.82+51C>A	ENSP00000450942.1:n.82+51C>A
ENST00000554944.5:n.112+51C>A
ENST00000555020.5:n.112+51C>A
ENST00000555086.5:n.56C>A
ENST00000555214.5:n.91+51C>A
ENST00000556278.1:c.82+51C>A	ENSP00000451792.1:n.82+51C>A
ENST00000556403.5:n.65C>A
ENST00000556494.5:n.32C>A
ENST00000557541.5:n.193C>A
ENST00000605275.1:n.369C>A
NM_000155.3:c.82+51C>A	NP_000146.2:n.82+51C>A
NM_001258332.1:c.-121+51C>A	NP_001245261.1:n.-121+51C>A
NM_000155.4:c.82+51C>A MANE Select	NP_000146.2:n.82+51C>A
NM_001258332.2:c.-121+51C>A	NP_001245261.1:n.-121+51C>A