Canonical Allele Identifier: CA373278662

Gene: GALT

Linked Data

• dbSNP Id: rs1426479143
• gnomAD v2: 9-34647172-G-A
• gnomAD v4: 9-34647175-G-A
• MyVariant Identifiers: chr9:g.34647172G>A (hg19) ; chr9:g.34647175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647175G>A , CM000671.2:g.34647175G>A	GRCh38
NC_000009.11:g.34647172G>A , CM000671.1:g.34647172G>A	GRCh37
NC_000009.10:g.34637172G>A	NCBI36
NG_009029.1:g.5538G>A
NG_009029.2:g.5587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.169G>A	ENSP00000509954.1:p.Val57Met
ENST00000378842.8:c.169G>A MANE Select	ENSP00000368119.4:p.Val57Met
ENST00000378842.7:c.169G>A	ENSP00000368119.3:p.Val57Met
ENST00000450095.6:c.-34G>A	ENSP00000401956.2:n.-34G>A
ENST00000465543.6:n.508G>A
ENST00000468099.2:n.209G>A
ENST00000472111.5:n.210G>A
ENST00000473506.6:c.169G>A	ENSP00000432839.2:p.Val57Met
ENST00000473529.5:n.216G>A
ENST00000485531.1:n.162G>A
ENST00000487381.5:n.195G>A
ENST00000489643.6:n.199G>A
ENST00000554085.5:c.169G>A	ENSP00000450419.1:p.Val57Met
ENST00000554139.5:n.222G>A
ENST00000554330.5:n.166G>A
ENST00000554550.5:c.169G>A	ENSP00000451435.1:p.Val57Met
ENST00000554638.5:n.193G>A
ENST00000554897.5:c.169G>A	ENSP00000450942.1:p.Val57Met
ENST00000554944.5:n.199G>A
ENST00000555020.5:n.199G>A
ENST00000555086.5:n.173G>A
ENST00000555214.5:n.178G>A
ENST00000556157.1:n.276G>A
ENST00000556244.1:c.53G>A
ENST00000556278.1:c.169G>A	ENSP00000451792.1:p.Val57Met
ENST00000556403.5:n.182G>A
ENST00000556494.5:n.201G>A
ENST00000557541.5:n.362G>A
ENST00000557706.5:n.283G>A
NM_000155.3:c.169G>A	NP_000146.2:p.Val57Met
NM_001258332.1:c.-34G>A	NP_001245261.1:n.-34G>A
NM_000155.4:c.169G>A MANE Select	NP_000146.2:p.Val57Met
NM_001258332.2:c.-34G>A	NP_001245261.1:n.-34G>A