Canonical Allele Identifier: CA373281983

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648365A>T (hg19) ; chr9:g.34648368A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648368A>T , CM000671.2:g.34648368A>T	GRCh38
NC_000009.11:g.34648365A>T , CM000671.1:g.34648365A>T	GRCh37
NC_000009.10:g.34638365A>T	NCBI36
NG_009029.1:g.6731A>T
NG_028966.1:g.1184A>T
NG_009029.2:g.6780A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*187A>T	ENSP00000509954.1:n.*187A>T
ENST00000378842.8:c.599A>T MANE Select	ENSP00000368119.4:p.Gln200Leu
ENST00000378842.7:c.599A>T	ENSP00000368119.3:p.Gln200Leu
ENST00000450095.6:c.272A>T	ENSP00000401956.2:p.Gln91Leu
ENST00000472111.5:n.855A>T
ENST00000473506.6:c.*187A>T	ENSP00000432839.2:n.*187A>T
ENST00000473529.5:n.758A>T
ENST00000485531.1:n.1193A>T
ENST00000487381.5:n.984A>T
ENST00000489643.6:n.374A>T
ENST00000554085.5:c.*343A>T	ENSP00000450419.1:n.*343A>T
ENST00000554139.5:n.845A>T
ENST00000554550.5:c.*219A>T	ENSP00000451435.1:n.*219A>T
ENST00000554638.5:n.1071A>T
ENST00000554897.5:c.*286A>T	ENSP00000450942.1:n.*286A>T
ENST00000554944.5:n.948A>T
ENST00000555020.5:n.755A>T
ENST00000555086.5:n.603A>T
ENST00000555214.5:n.420A>T
ENST00000556244.1:c.586A>T
ENST00000556278.1:c.344A>T	ENSP00000451792.1:p.Gln115Leu
ENST00000556494.5:n.720A>T
ENST00000557706.5:n.1161A>T
NM_000155.3:c.599A>T	NP_000146.2:p.Gln200Leu
NM_001258332.1:c.272A>T	NP_001245261.1:p.Gln91Leu
NM_000155.4:c.599A>T MANE Select	NP_000146.2:p.Gln200Leu
NM_001258332.2:c.272A>T	NP_001245261.1:p.Gln91Leu