Canonical Allele Identifier: CA373280350

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647674T>A (hg19) ; chr9:g.34647677T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647677T>A , CM000671.2:g.34647677T>A	GRCh38
NC_000009.11:g.34647674T>A , CM000671.1:g.34647674T>A	GRCh37
NC_000009.10:g.34637674T>A	NCBI36
NG_009029.1:g.6040T>A
NG_028966.1:g.493T>A
NG_009029.2:g.6089T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+110T>A	ENSP00000509954.1:n.328+110T>A
ENST00000378842.8:c.349T>A MANE Select	ENSP00000368119.4:p.Phe117Ile
ENST00000378842.7:c.349T>A	ENSP00000368119.3:p.Phe117Ile
ENST00000450095.6:c.51-155T>A	ENSP00000401956.2:n.51-155T>A
ENST00000465543.6:n.688T>A
ENST00000472111.5:n.479T>A
ENST00000473506.6:c.300T>A	ENSP00000432839.2:p.Phe100Leu
ENST00000473529.5:n.485T>A
ENST00000485531.1:n.664T>A
ENST00000487381.5:n.608T>A
ENST00000489643.6:n.282+419T>A
ENST00000554085.5:c.*93T>A	ENSP00000450419.1:n.*93T>A
ENST00000554139.5:n.402T>A
ENST00000554330.5:n.386T>A
ENST00000554550.5:c.253-155T>A	ENSP00000451435.1:n.253-155T>A
ENST00000554638.5:n.695T>A
ENST00000554897.5:c.253-155T>A	ENSP00000450942.1:n.253-155T>A
ENST00000554944.5:n.419T>A
ENST00000555020.5:n.379T>A
ENST00000555086.5:n.353T>A
ENST00000555214.5:n.262-371T>A
ENST00000556157.1:n.473T>A
ENST00000556244.1:c.336T>A
ENST00000556278.1:c.252+419T>A	ENSP00000451792.1:n.252+419T>A
ENST00000556403.5:n.451T>A
ENST00000556494.5:n.470T>A
ENST00000557541.5:n.493T>A
ENST00000557706.5:n.785T>A
NM_000155.3:c.349T>A	NP_000146.2:p.Phe117Ile
NM_001258332.1:c.51-155T>A	NP_001245261.1:n.51-155T>A
NM_000155.4:c.349T>A MANE Select	NP_000146.2:p.Phe117Ile
NM_001258332.2:c.51-155T>A	NP_001245261.1:n.51-155T>A