Canonical Allele Identifier: CA373278771

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647221C>A (hg19) ; chr9:g.34647224C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647224C>A , CM000671.2:g.34647224C>A	GRCh38
NC_000009.11:g.34647221C>A , CM000671.1:g.34647221C>A	GRCh37
NC_000009.10:g.34637221C>A	NCBI36
NG_009029.1:g.5587C>A
NG_028966.1:g.40C>A
NG_009029.2:g.5636C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.218C>A	ENSP00000509954.1:p.Pro73His
ENST00000378842.8:c.218C>A MANE Select	ENSP00000368119.4:p.Pro73His
ENST00000378842.7:c.218C>A	ENSP00000368119.3:p.Pro73His
ENST00000450095.6:c.16C>A	ENSP00000401956.2:p.Leu6Ile
ENST00000465543.6:n.557C>A
ENST00000468099.2:n.258C>A
ENST00000472111.5:n.259C>A
ENST00000473506.6:c.218C>A	ENSP00000432839.2:p.Pro73His
ENST00000473529.5:n.265C>A
ENST00000485531.1:n.211C>A
ENST00000487381.5:n.244C>A
ENST00000489643.6:n.248C>A
ENST00000554085.5:c.218C>A	ENSP00000450419.1:p.Pro73His
ENST00000554139.5:n.271C>A
ENST00000554330.5:n.215C>A
ENST00000554550.5:c.218C>A	ENSP00000451435.1:p.Pro73His
ENST00000554638.5:n.242C>A
ENST00000554897.5:c.218C>A	ENSP00000450942.1:p.Pro73His
ENST00000554944.5:n.248C>A
ENST00000555020.5:n.248C>A
ENST00000555086.5:n.222C>A
ENST00000555214.5:n.227C>A
ENST00000556157.1:n.325C>A
ENST00000556244.1:c.102C>A
ENST00000556278.1:c.218C>A	ENSP00000451792.1:p.Pro73His
ENST00000556403.5:n.231C>A
ENST00000556494.5:n.250C>A
ENST00000557541.5:n.411C>A
ENST00000557706.5:n.332C>A
NM_000155.3:c.218C>A	NP_000146.2:p.Pro73His
NM_001258332.1:c.16C>A	NP_001245261.1:p.Leu6Ile
NM_000155.4:c.218C>A MANE Select	NP_000146.2:p.Pro73His
NM_001258332.2:c.16C>A	NP_001245261.1:p.Leu6Ile