Canonical Allele Identifier: CA373282298

Gene: GALT

Linked Data

• dbSNP Id: rs2132344327
• MyVariant Identifiers: chr9:g.34648431G>T (hg19) ; chr9:g.34648434G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648434G>T , CM000671.2:g.34648434G>T	GRCh38
NC_000009.11:g.34648431G>T , CM000671.1:g.34648431G>T	GRCh37
NC_000009.10:g.34638431G>T	NCBI36
NG_009029.1:g.6797G>T
NG_028966.1:g.1250G>T
NG_009029.2:g.6846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*253G>T	ENSP00000509954.1:n.*253G>T
ENST00000378842.8:c.665G>T MANE Select	ENSP00000368119.4:p.Ser222Ile
ENST00000378842.7:c.665G>T	ENSP00000368119.3:p.Ser222Ile
ENST00000450095.6:c.338G>T	ENSP00000401956.2:p.Ser113Ile
ENST00000472111.5:n.921G>T
ENST00000473506.6:c.*253G>T	ENSP00000432839.2:n.*253G>T
ENST00000473529.5:n.824G>T
ENST00000487381.5:n.1050G>T
ENST00000489643.6:n.440G>T
ENST00000554085.5:c.*409G>T	ENSP00000450419.1:n.*409G>T
ENST00000554550.5:c.*285G>T	ENSP00000451435.1:n.*285G>T
ENST00000554638.5:n.1137G>T
ENST00000555020.5:n.821G>T
ENST00000555086.5:n.669G>T
ENST00000555214.5:n.486G>T
ENST00000555754.1:n.10G>T
ENST00000556244.1:c.652G>T
ENST00000556278.1:c.410G>T	ENSP00000451792.1:p.Ser137Ile
ENST00000556494.5:n.786G>T
ENST00000557706.5:n.1227G>T
NM_000155.3:c.665G>T	NP_000146.2:p.Ser222Ile
NM_001258332.1:c.338G>T	NP_001245261.1:p.Ser113Ile
NM_000155.4:c.665G>T MANE Select	NP_000146.2:p.Ser222Ile
NM_001258332.2:c.338G>T	NP_001245261.1:p.Ser113Ile