Canonical Allele Identifier: CA373282081

Gene: GALT

Linked Data

• dbSNP Id: rs1821164908
• gnomAD v4: 9-34648392-C-A
• MyVariant Identifiers: chr9:g.34648389C>A (hg19) ; chr9:g.34648392C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648392C>A , CM000671.2:g.34648392C>A	GRCh38
NC_000009.11:g.34648389C>A , CM000671.1:g.34648389C>A	GRCh37
NC_000009.10:g.34638389C>A	NCBI36
NG_009029.1:g.6755C>A
NG_028966.1:g.1208C>A
NG_009029.2:g.6804C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*211C>A	ENSP00000509954.1:n.*211C>A
ENST00000378842.8:c.623C>A MANE Select	ENSP00000368119.4:p.Ala208Asp
ENST00000378842.7:c.623C>A	ENSP00000368119.3:p.Ala208Asp
ENST00000450095.6:c.296C>A	ENSP00000401956.2:p.Ala99Asp
ENST00000472111.5:n.879C>A
ENST00000473506.6:c.*211C>A	ENSP00000432839.2:n.*211C>A
ENST00000473529.5:n.782C>A
ENST00000487381.5:n.1008C>A
ENST00000489643.6:n.398C>A
ENST00000554085.5:c.*367C>A	ENSP00000450419.1:n.*367C>A
ENST00000554550.5:c.*243C>A	ENSP00000451435.1:n.*243C>A
ENST00000554638.5:n.1095C>A
ENST00000555020.5:n.779C>A
ENST00000555086.5:n.627C>A
ENST00000555214.5:n.444C>A
ENST00000556244.1:c.610C>A
ENST00000556278.1:c.368C>A	ENSP00000451792.1:p.Ala123Asp
ENST00000556494.5:n.744C>A
ENST00000557706.5:n.1185C>A
NM_000155.3:c.623C>A	NP_000146.2:p.Ala208Asp
NM_001258332.1:c.296C>A	NP_001245261.1:p.Ala99Asp
NM_000155.4:c.623C>A MANE Select	NP_000146.2:p.Ala208Asp
NM_001258332.2:c.296C>A	NP_001245261.1:p.Ala99Asp