Canonical Allele Identifier: CA373284799

Gene: GALT

Linked Data

• gnomAD v4: 9-34649447-C-A
• MyVariant Identifiers: chr9:g.34649444C>A (hg19) ; chr9:g.34649447C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649447C>A , CM000671.2:g.34649447C>A	GRCh38
NC_000009.11:g.34649444C>A , CM000671.1:g.34649444C>A	GRCh37
NC_000009.10:g.34639444C>A	NCBI36
NG_009029.1:g.7810C>A
NG_028966.1:g.2263C>A
NG_009029.2:g.7859C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*530C>A	ENSP00000509954.1:n.*530C>A
ENST00000378842.8:c.942C>A MANE Select	ENSP00000368119.4:p.Asn314Lys
ENST00000378842.7:c.942C>A	ENSP00000368119.3:p.Asn314Lys
ENST00000450095.6:c.615C>A	ENSP00000401956.2:p.Asn205Lys
ENST00000488412.2:n.526C>A
ENST00000489643.6:n.1350C>A
ENST00000554550.5:c.*562C>A	ENSP00000451435.1:n.*562C>A
ENST00000554638.5:n.1414C>A
ENST00000555020.5:n.1731C>A
ENST00000555754.1:n.390C>A
ENST00000556278.1:c.432+991C>A	ENSP00000451792.1:n.432+991C>A
ENST00000557706.5:n.1517C>A
NM_000155.3:c.942C>A	NP_000146.2:p.Asn314Lys
NM_001258332.1:c.615C>A	NP_001245261.1:p.Asn205Lys
NM_000155.4:c.942C>A MANE Select	NP_000146.2:p.Asn314Lys
NM_001258332.2:c.615C>A	NP_001245261.1:p.Asn205Lys