Canonical Allele Identifier: CA3518642

Gene: SLC36A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.151322182G>A , CM000667.2:g.151322182G>A	GRCh38
NC_000005.9:g.150701743G>A , CM000667.1:g.150701743G>A	GRCh37
NC_000005.8:g.150681936G>A	NCBI36
NG_027745.1:g.30409C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181776.3:c.1044C>T MANE Select	NP_861441.2:p.Ala348=
ENST00000335244.9:c.1044C>T MANE Select	ENSP00000334223.4:p.Ala348=
NM_181776.2:c.1044C>T	NP_861441.2:p.Ala348=
ENST00000335244.8:c.1044C>T	ENSP00000334223.4:p.Ala348=
ENST00000518280.5:c.*515C>T	ENSP00000428453.1:n.*515C>T
ENST00000518617.5:c.*612C>T	ENSP00000430149.1:n.*612C>T
ENST00000521967.1:c.1044C>T	ENSP00000430535.1:p.Ala348=
XM_005268377.3:c.1044C>T	XP_005268434.1:p.Ala348=
XM_005268377.4:c.1044C>T	XP_005268434.1:p.Ala348=
XM_006714756.2:c.945C>T	XP_006714819.1:p.Ala315=
XM_006714756.4:c.945C>T	XP_006714819.1:p.Ala315=
XM_017009084.1:c.450C>T	XP_016864573.1:p.Ala150=