Canonical Allele Identifier: CA373285270

Gene: GALT

Linked Data

• ClinVar Variation Id: 2162959
• ClinVar RCV Id: RCV003091541
• gnomAD v4: 9-34649547-G-A
• MyVariant Identifiers: chr9:g.34649544G>A (hg19) ; chr9:g.34649547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649547G>A , CM000671.2:g.34649547G>A	GRCh38
NC_000009.11:g.34649544G>A , CM000671.1:g.34649544G>A	GRCh37
NC_000009.10:g.34639544G>A	NCBI36
NG_009029.1:g.7910G>A
NG_028966.1:g.2363G>A
NG_009029.2:g.7959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*630G>A	ENSP00000509954.1:n.*630G>A
ENST00000378842.8:c.1042G>A MANE Select	ENSP00000368119.4:p.Asp348Asn
ENST00000378842.7:c.1042G>A	ENSP00000368119.3:p.Asp348Asn
ENST00000450095.6:c.715G>A	ENSP00000401956.2:p.Asp239Asn
ENST00000488412.2:n.626G>A
ENST00000489643.6:n.1450G>A
ENST00000554550.5:c.*662G>A	ENSP00000451435.1:n.*662G>A
ENST00000554638.5:n.1514G>A
ENST00000555020.5:n.1831G>A
ENST00000555754.1:n.490G>A
ENST00000556278.1:c.432+1091G>A	ENSP00000451792.1:n.432+1091G>A
ENST00000557706.5:n.1617G>A
NM_000155.3:c.1042G>A	NP_000146.2:p.Asp348Asn
NM_001258332.1:c.715G>A	NP_001245261.1:p.Asp239Asn
NM_000155.4:c.1042G>A MANE Select	NP_000146.2:p.Asp348Asn
NM_001258332.2:c.715G>A	NP_001245261.1:p.Asp239Asn