Canonical Allele Identifier: CA373280369

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647676C>A (hg19) ; chr9:g.34647679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647679C>A , CM000671.2:g.34647679C>A	GRCh38
NC_000009.11:g.34647676C>A , CM000671.1:g.34647676C>A	GRCh37
NC_000009.10:g.34637676C>A	NCBI36
NG_009029.1:g.6042C>A
NG_028966.1:g.495C>A
NG_009029.2:g.6091C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+112C>A	ENSP00000509954.1:n.328+112C>A
ENST00000378842.8:c.351C>A MANE Select	ENSP00000368119.4:p.Phe117Leu
ENST00000378842.7:c.351C>A	ENSP00000368119.3:p.Phe117Leu
ENST00000450095.6:c.51-153C>A	ENSP00000401956.2:n.51-153C>A
ENST00000465543.6:n.690C>A
ENST00000472111.5:n.481C>A
ENST00000473506.6:c.302C>A	ENSP00000432839.2:p.Ser101Tyr
ENST00000473529.5:n.487C>A
ENST00000485531.1:n.666C>A
ENST00000487381.5:n.610C>A
ENST00000489643.6:n.282+421C>A
ENST00000554085.5:c.*95C>A	ENSP00000450419.1:n.*95C>A
ENST00000554139.5:n.404C>A
ENST00000554330.5:n.388C>A
ENST00000554550.5:c.253-153C>A	ENSP00000451435.1:n.253-153C>A
ENST00000554638.5:n.697C>A
ENST00000554897.5:c.253-153C>A	ENSP00000450942.1:n.253-153C>A
ENST00000554944.5:n.421C>A
ENST00000555020.5:n.381C>A
ENST00000555086.5:n.355C>A
ENST00000555214.5:n.262-369C>A
ENST00000556157.1:n.475C>A
ENST00000556244.1:c.338C>A
ENST00000556278.1:c.252+421C>A	ENSP00000451792.1:n.252+421C>A
ENST00000556403.5:n.453C>A
ENST00000556494.5:n.472C>A
ENST00000557541.5:n.495C>A
ENST00000557706.5:n.787C>A
NM_000155.3:c.351C>A	NP_000146.2:p.Phe117Leu
NM_001258332.1:c.51-153C>A	NP_001245261.1:n.51-153C>A
NM_000155.4:c.351C>A MANE Select	NP_000146.2:p.Phe117Leu
NM_001258332.2:c.51-153C>A	NP_001245261.1:n.51-153C>A