Canonical Allele Identifier: CA373280011

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647540C>A (hg19) ; chr9:g.34647543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647543C>A , CM000671.2:g.34647543C>A	GRCh38
NC_000009.11:g.34647540C>A , CM000671.1:g.34647540C>A	GRCh37
NC_000009.10:g.34637540C>A	NCBI36
NG_009029.1:g.5906C>A
NG_028966.1:g.359C>A
NG_009029.2:g.5955C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.304C>A	ENSP00000509954.1:p.Leu102Met
ENST00000378842.8:c.304C>A MANE Select	ENSP00000368119.4:p.Leu102Met
ENST00000378842.7:c.304C>A	ENSP00000368119.3:p.Leu102Met
ENST00000450095.6:c.50+285C>A	ENSP00000401956.2:n.50+285C>A
ENST00000465543.6:n.643C>A
ENST00000472111.5:n.345C>A
ENST00000473506.6:c.255C>A	ENSP00000432839.2:p.Leu85=
ENST00000473529.5:n.351C>A
ENST00000485531.1:n.530C>A
ENST00000487381.5:n.563C>A
ENST00000489643.6:n.282+285C>A
ENST00000554085.5:c.*48C>A	ENSP00000450419.1:n.*48C>A
ENST00000554139.5:n.357C>A
ENST00000554330.5:n.252C>A
ENST00000554550.5:c.252+285C>A	ENSP00000451435.1:n.252+285C>A
ENST00000554638.5:n.561C>A
ENST00000554897.5:c.252+285C>A	ENSP00000450942.1:n.252+285C>A
ENST00000554944.5:n.285C>A
ENST00000555020.5:n.334C>A
ENST00000555086.5:n.308C>A
ENST00000555214.5:n.261+285C>A
ENST00000556157.1:n.428C>A
ENST00000556244.1:c.291C>A
ENST00000556278.1:c.252+285C>A	ENSP00000451792.1:n.252+285C>A
ENST00000556403.5:n.317C>A
ENST00000556494.5:n.336C>A
ENST00000557541.5:n.448C>A
ENST00000557706.5:n.651C>A
NM_000155.3:c.304C>A	NP_000146.2:p.Leu102Met
NM_001258332.1:c.50+285C>A	NP_001245261.1:n.50+285C>A
NM_000155.4:c.304C>A MANE Select	NP_000146.2:p.Leu102Met
NM_001258332.2:c.50+285C>A	NP_001245261.1:n.50+285C>A