Canonical Allele Identifier: CA373284534

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649073G>T (hg19) ; chr9:g.34649076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649076G>T , CM000671.2:g.34649076G>T	GRCh38
NC_000009.11:g.34649073G>T , CM000671.1:g.34649073G>T	GRCh37
NC_000009.10:g.34639073G>T	NCBI36
NG_009029.1:g.7439G>T
NG_028966.1:g.1892G>T
NG_009029.2:g.7488G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*487G>T	ENSP00000509954.1:n.*487G>T
ENST00000378842.8:c.899G>T MANE Select	ENSP00000368119.4:p.Trp300Leu
ENST00000378842.7:c.899G>T	ENSP00000368119.3:p.Trp300Leu
ENST00000450095.6:c.572G>T	ENSP00000401956.2:p.Trp191Leu
ENST00000488412.2:n.155G>T
ENST00000489643.6:n.979G>T
ENST00000554550.5:c.*519G>T	ENSP00000451435.1:n.*519G>T
ENST00000554638.5:n.1371G>T
ENST00000555020.5:n.1360G>T
ENST00000555086.5:n.1006G>T
ENST00000555754.1:n.347G>T
ENST00000556278.1:c.432+620G>T	ENSP00000451792.1:n.432+620G>T
ENST00000557706.5:n.1474G>T
NM_000155.3:c.899G>T	NP_000146.2:p.Trp300Leu
NM_001258332.1:c.572G>T	NP_001245261.1:p.Trp191Leu
NM_000155.4:c.899G>T MANE Select	NP_000146.2:p.Trp300Leu
NM_001258332.2:c.572G>T	NP_001245261.1:p.Trp191Leu