Canonical Allele Identifier: CA464595878

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647844C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647847C>T , CM000671.2:g.34647847C>T	GRCh38
NC_000009.11:g.34647844C>T , CM000671.1:g.34647844C>T	GRCh37
NC_000009.10:g.34637844C>T	NCBI36
NG_009029.1:g.6210C>T
NG_028966.1:g.663C>T
NG_009029.2:g.6259C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.344C>T	ENSP00000509954.1:p.Ser115Phe
ENST00000378842.8:c.393C>T MANE Select	ENSP00000368119.4:p.Phe131=
ENST00000378842.7:c.393C>T	ENSP00000368119.3:p.Phe131=
ENST00000450095.6:c.66C>T	ENSP00000401956.2:p.Phe22=
ENST00000465543.6:n.732C>T
ENST00000472111.5:n.649C>T
ENST00000473506.6:c.344C>T	ENSP00000432839.2:p.Ser115Phe
ENST00000473529.5:n.529C>T
ENST00000485531.1:n.834C>T
ENST00000487381.5:n.778C>T
ENST00000489643.6:n.283-268C>T
ENST00000554085.5:c.*137C>T	ENSP00000450419.1:n.*137C>T
ENST00000554139.5:n.572C>T
ENST00000554330.5:n.556C>T
ENST00000554550.5:c.*13C>T	ENSP00000451435.1:n.*13C>T
ENST00000554638.5:n.865C>T
ENST00000554897.5:c.*13C>T	ENSP00000450942.1:n.*13C>T
ENST00000554944.5:n.589C>T
ENST00000555020.5:n.549C>T
ENST00000555086.5:n.397C>T
ENST00000555214.5:n.262-201C>T
ENST00000556244.1:c.380C>T
ENST00000556278.1:c.253-268C>T	ENSP00000451792.1:n.253-268C>T
ENST00000556494.5:n.514C>T
ENST00000557541.5:n.537C>T
ENST00000557706.5:n.955C>T
NM_000155.3:c.393C>T	NP_000146.2:p.Phe131=
NM_001258332.1:c.66C>T	NP_001245261.1:p.Phe22=
NM_000155.4:c.393C>T MANE Select	NP_000146.2:p.Phe131=
NM_001258332.2:c.66C>T	NP_001245261.1:p.Phe22=