Canonical Allele Identifier: CA8319842

Gene: SLC52A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.5034271G>A , CM000679.2:g.5034271G>A	GRCh38
NC_000017.10:g.4937566G>A , CM000679.1:g.4937566G>A	GRCh37
NC_000017.9:g.4878290G>A	NCBI36
NG_033117.1:g.6162C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017986.4:c.218C>T MANE Select	NP_060456.3:p.Pro73Leu
ENST00000254853.10:c.218C>T MANE Select	ENSP00000254853.5:p.Pro73Leu
NM_001104577.1:c.218C>T	NP_001098047.1:p.Pro73Leu
NM_001104577.2:c.218C>T	NP_001098047.1:p.Pro73Leu
NM_017986.3:c.218C>T	NP_060456.3:p.Pro73Leu
ENST00000254853.9:c.218C>T	ENSP00000254853.5:p.Pro73Leu
ENST00000424747.1:c.218C>T	ENSP00000399979.1:p.Pro73Leu
ENST00000512825.6:c.218C>T	ENSP00000443026.1:p.Pro73Leu
ENST00000512825.7:c.218C>T	ENSP00000443026.1:p.Pro73Leu
ENST00000573674.1:n.1007C>T
ENST00000575919.1:n.921C>T
XM_011523951.1:c.218C>T	XP_011522253.1:p.Pro73Leu
XM_011523951.2:c.218C>T	XP_011522253.1:p.Pro73Leu
XR_002958101.1:n.339+2602G>A
XR_934176.1:n.339+2602G>A