Canonical Allele Identifier: CA373278600

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647143A>T (hg19) ; chr9:g.34647146A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647146A>T , CM000671.2:g.34647146A>T	GRCh38
NC_000009.11:g.34647143A>T , CM000671.1:g.34647143A>T	GRCh37
NC_000009.10:g.34637143A>T	NCBI36
NG_009029.1:g.5509A>T
NG_009029.2:g.5558A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.140A>T	ENSP00000509954.1:p.His47Leu
ENST00000378842.8:c.140A>T MANE Select	ENSP00000368119.4:p.His47Leu
ENST00000378842.7:c.140A>T	ENSP00000368119.3:p.His47Leu
ENST00000450095.6:c.-63A>T	ENSP00000401956.2:n.-63A>T
ENST00000465543.6:n.479A>T
ENST00000468099.2:n.180A>T
ENST00000472111.5:n.181A>T
ENST00000473506.6:c.140A>T	ENSP00000432839.2:p.His47Leu
ENST00000473529.5:n.187A>T
ENST00000485531.1:n.133A>T
ENST00000487381.5:n.166A>T
ENST00000489643.6:n.170A>T
ENST00000554085.5:c.140A>T	ENSP00000450419.1:p.His47Leu
ENST00000554139.5:n.193A>T
ENST00000554330.5:n.137A>T
ENST00000554550.5:c.140A>T	ENSP00000451435.1:p.His47Leu
ENST00000554638.5:n.164A>T
ENST00000554897.5:c.140A>T	ENSP00000450942.1:p.His47Leu
ENST00000554944.5:n.170A>T
ENST00000555020.5:n.170A>T
ENST00000555086.5:n.144A>T
ENST00000555214.5:n.149A>T
ENST00000556157.1:n.247A>T
ENST00000556244.1:c.24A>T
ENST00000556278.1:c.140A>T	ENSP00000451792.1:p.His47Leu
ENST00000556403.5:n.153A>T
ENST00000556494.5:n.172A>T
ENST00000557541.5:n.333A>T
ENST00000557706.5:n.254A>T
ENST00000605275.1:n.678A>T
NM_000155.3:c.140A>T	NP_000146.2:p.His47Leu
NM_001258332.1:c.-63A>T	NP_001245261.1:n.-63A>T
NM_000155.4:c.140A>T MANE Select	NP_000146.2:p.His47Leu
NM_001258332.2:c.-63A>T	NP_001245261.1:n.-63A>T