Canonical Allele Identifier: CA248398

Gene: TMEM72 TMEM72-AS1

Linked Data

• ClinVar Variation Id: 156705
• ClinVar RCV Id: RCV000190283
• dbSNP Id: rs587777896
• MyVariant Identifiers: chr10:g.45430167C>A (hg19) ; chr10:g.44934719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.44934719C>A , CM000672.2:g.44934719C>A	GRCh38
NC_000010.10:g.45430167C>A , CM000672.1:g.45430167C>A	GRCh37
NC_000010.9:g.44750173C>A	NCBI36
NG_051584.1:g.28404C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389583.5:c.413C>A (TMEM72) MANE Select	ENSP00000374234.4:p.Ala138Asp
ENST00000389583.4:c.413C>A (TMEM72)	ENSP00000374234.4:p.Ala138Asp
ENST00000460364.1:n.424C>A (TMEM72)
ENST00000544540.5:c.59C>A (TMEM72)	ENSP00000439911.1:p.Ala20Asp
NM_001123376.2:c.413C>A (TMEM72)	NP_001116848.1:p.Ala138Asp
NR_033842.1:n.99-11493G>T (TMEM72-AS1)
XM_011540068.1:c.461C>A (TMEM72)	XP_011538370.1:p.Ala154Asp
XM_011540069.1:c.437C>A (TMEM72)	XP_011538371.1:p.Ala146Asp
XM_011540070.1:c.383C>A (TMEM72)	XP_011538372.1:p.Ala128Asp
XM_011540071.1:c.59C>A (TMEM72)	XP_011538373.1:p.Ala20Asp
NM_001345926.1:c.59C>A (TMEM72)	NP_001332855.1:p.Ala20Asp
XM_011540069.3:c.59C>A (TMEM72)	XP_011538371.2:p.Ala20Asp
XM_011540070.2:c.383C>A (TMEM72)	XP_011538372.1:p.Ala128Asp
XM_011540071.2:c.59C>A (TMEM72)	XP_011538373.1:p.Ala20Asp
NM_001123376.3:c.413C>A (TMEM72) MANE Select	NP_001116848.1:p.Ala138Asp
NM_001345926.2:c.59C>A (TMEM72)	NP_001332855.1:p.Ala20Asp