Canonical Allele Identifier: CA373280347

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647672T>G (hg19) ; chr9:g.34647675T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647675T>G , CM000671.2:g.34647675T>G	GRCh38
NC_000009.11:g.34647672T>G , CM000671.1:g.34647672T>G	GRCh37
NC_000009.10:g.34637672T>G	NCBI36
NG_009029.1:g.6038T>G
NG_028966.1:g.491T>G
NG_009029.2:g.6087T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+108T>G	ENSP00000509954.1:n.328+108T>G
ENST00000378842.8:c.347T>G MANE Select	ENSP00000368119.4:p.Leu116Arg
ENST00000378842.7:c.347T>G	ENSP00000368119.3:p.Leu116Arg
ENST00000450095.6:c.51-157T>G	ENSP00000401956.2:n.51-157T>G
ENST00000465543.6:n.686T>G
ENST00000472111.5:n.477T>G
ENST00000473506.6:c.298T>G	ENSP00000432839.2:p.Phe100Val
ENST00000473529.5:n.483T>G
ENST00000485531.1:n.662T>G
ENST00000487381.5:n.606T>G
ENST00000489643.6:n.282+417T>G
ENST00000554085.5:c.*91T>G	ENSP00000450419.1:n.*91T>G
ENST00000554139.5:n.400T>G
ENST00000554330.5:n.384T>G
ENST00000554550.5:c.253-157T>G	ENSP00000451435.1:n.253-157T>G
ENST00000554638.5:n.693T>G
ENST00000554897.5:c.253-157T>G	ENSP00000450942.1:n.253-157T>G
ENST00000554944.5:n.417T>G
ENST00000555020.5:n.377T>G
ENST00000555086.5:n.351T>G
ENST00000555214.5:n.262-373T>G
ENST00000556157.1:n.471T>G
ENST00000556244.1:c.334T>G
ENST00000556278.1:c.252+417T>G	ENSP00000451792.1:n.252+417T>G
ENST00000556403.5:n.449T>G
ENST00000556494.5:n.468T>G
ENST00000557541.5:n.491T>G
ENST00000557706.5:n.783T>G
NM_000155.3:c.347T>G	NP_000146.2:p.Leu116Arg
NM_001258332.1:c.51-157T>G	NP_001245261.1:n.51-157T>G
NM_000155.4:c.347T>G MANE Select	NP_000146.2:p.Leu116Arg
NM_001258332.2:c.51-157T>G	NP_001245261.1:n.51-157T>G