Canonical Allele Identifier: CA373279996

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647538C>A (hg19) ; chr9:g.34647541C>A (hg38)
• PubMed: PMID:25124065

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647541C>A , CM000671.2:g.34647541C>A	GRCh38
NC_000009.11:g.34647538C>A , CM000671.1:g.34647538C>A	GRCh37
NC_000009.10:g.34637538C>A	NCBI36
NG_009029.1:g.5904C>A
NG_028966.1:g.357C>A
NG_009029.2:g.5953C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.302C>A	ENSP00000509954.1:p.Ala101Asp
ENST00000378842.8:c.302C>A MANE Select	ENSP00000368119.4:p.Ala101Asp
ENST00000378842.7:c.302C>A	ENSP00000368119.3:p.Ala101Asp
ENST00000450095.6:c.50+283C>A	ENSP00000401956.2:n.50+283C>A
ENST00000465543.6:n.641C>A
ENST00000472111.5:n.343C>A
ENST00000473506.6:c.253C>A	ENSP00000432839.2:p.Leu85Ile
ENST00000473529.5:n.349C>A
ENST00000485531.1:n.528C>A
ENST00000487381.5:n.561C>A
ENST00000489643.6:n.282+283C>A
ENST00000554085.5:c.*46C>A	ENSP00000450419.1:n.*46C>A
ENST00000554139.5:n.355C>A
ENST00000554330.5:n.250C>A
ENST00000554550.5:c.252+283C>A	ENSP00000451435.1:n.252+283C>A
ENST00000554638.5:n.559C>A
ENST00000554897.5:c.252+283C>A	ENSP00000450942.1:n.252+283C>A
ENST00000554944.5:n.283C>A
ENST00000555020.5:n.332C>A
ENST00000555086.5:n.306C>A
ENST00000555214.5:n.261+283C>A
ENST00000556157.1:n.426C>A
ENST00000556244.1:c.289C>A
ENST00000556278.1:c.252+283C>A	ENSP00000451792.1:n.252+283C>A
ENST00000556403.5:n.315C>A
ENST00000556494.5:n.334C>A
ENST00000557541.5:n.446C>A
ENST00000557706.5:n.649C>A
NM_000155.3:c.302C>A	NP_000146.2:p.Ala101Asp
NM_001258332.1:c.50+283C>A	NP_001245261.1:n.50+283C>A
NM_000155.4:c.302C>A MANE Select	NP_000146.2:p.Ala101Asp
NM_001258332.2:c.50+283C>A	NP_001245261.1:n.50+283C>A