Canonical Allele Identifier: CA373281620

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648152C>A (hg19) ; chr9:g.34648155C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648155C>A , CM000671.2:g.34648155C>A	GRCh38
NC_000009.11:g.34648152C>A , CM000671.1:g.34648152C>A	GRCh37
NC_000009.10:g.34638152C>A	NCBI36
NG_009029.1:g.6518C>A
NG_028966.1:g.971C>A
NG_009029.2:g.6567C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*136C>A	ENSP00000509954.1:n.*136C>A
ENST00000378842.8:c.548C>A MANE Select	ENSP00000368119.4:p.Pro183His
ENST00000378842.7:c.548C>A	ENSP00000368119.3:p.Pro183His
ENST00000450095.6:c.221C>A	ENSP00000401956.2:p.Pro74His
ENST00000465543.6:n.887C>A
ENST00000472111.5:n.804C>A
ENST00000473506.6:c.*136C>A	ENSP00000432839.2:n.*136C>A
ENST00000473529.5:n.707C>A
ENST00000485531.1:n.1142C>A
ENST00000487381.5:n.933C>A
ENST00000489643.6:n.323C>A
ENST00000554085.5:c.*292C>A	ENSP00000450419.1:n.*292C>A
ENST00000554139.5:n.794C>A
ENST00000554550.5:c.*168C>A	ENSP00000451435.1:n.*168C>A
ENST00000554638.5:n.1020C>A
ENST00000554897.5:c.*235C>A	ENSP00000450942.1:n.*235C>A
ENST00000554944.5:n.897C>A
ENST00000555020.5:n.704C>A
ENST00000555086.5:n.552C>A
ENST00000555214.5:n.369C>A
ENST00000556244.1:c.535C>A
ENST00000556278.1:c.293C>A	ENSP00000451792.1:p.Pro98His
ENST00000556494.5:n.669C>A
ENST00000557706.5:n.1110C>A
NM_000155.3:c.548C>A	NP_000146.2:p.Pro183His
NM_001258332.1:c.221C>A	NP_001245261.1:p.Pro74His
NM_000155.4:c.548C>A MANE Select	NP_000146.2:p.Pro183His
NM_001258332.2:c.221C>A	NP_001245261.1:p.Pro74His