Canonical Allele Identifier: CA464404349

Gene: GALT

Linked Data

• gnomAD v4: 9-34649495-C-T
• MyVariant Identifiers: chr9:g.34649492C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649495C>T , CM000671.2:g.34649495C>T	GRCh38
NC_000009.11:g.34649492C>T , CM000671.1:g.34649492C>T	GRCh37
NC_000009.10:g.34639492C>T	NCBI36
NG_009029.1:g.7858C>T
NG_028966.1:g.2311C>T
NG_009029.2:g.7907C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*578C>T	ENSP00000509954.1:n.*578C>T
ENST00000378842.8:c.990C>T MANE Select	ENSP00000368119.4:p.Ala330=
ENST00000378842.7:c.990C>T	ENSP00000368119.3:p.Ala330=
ENST00000450095.6:c.663C>T	ENSP00000401956.2:p.Ala221=
ENST00000488412.2:n.574C>T
ENST00000489643.6:n.1398C>T
ENST00000554550.5:c.*610C>T	ENSP00000451435.1:n.*610C>T
ENST00000554638.5:n.1462C>T
ENST00000555020.5:n.1779C>T
ENST00000555754.1:n.438C>T
ENST00000556278.1:c.432+1039C>T	ENSP00000451792.1:n.432+1039C>T
ENST00000557706.5:n.1565C>T
NM_000155.3:c.990C>T	NP_000146.2:p.Ala330=
NM_001258332.1:c.663C>T	NP_001245261.1:p.Ala221=
NM_000155.4:c.990C>T MANE Select	NP_000146.2:p.Ala330=
NM_001258332.2:c.663C>T	NP_001245261.1:p.Ala221=