Canonical Allele Identifier: CA347653000

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2496964
• ClinVar RCV Id: RCV003216541 ; RCV003517470 ; RCV003966293
• dbSNP Id: rs1394209177
• gnomAD v4: 2-96254077-C-G
• MyVariant Identifiers: chr2:g.96919815C>G (hg19) ; chr2:g.96254077C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254077C>G , CM000664.2:g.96254077C>G	GRCh38
NC_000002.11:g.96919815C>G , CM000664.1:g.96919815C>G	GRCh37
NC_000002.10:g.96283542C>G	NCBI36
NG_027695.1:g.16937G>C , LRG_528:g.16937G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.448G>C MANE Select	ENSP00000258439.3:p.Ala150Pro
ENST00000258439.7:c.448G>C	ENSP00000258439.2:p.Ala150Pro
ENST00000432959.1:c.448G>C	ENSP00000416660.1:p.Ala150Pro
ENST00000435268.1:c.196G>C	ENSP00000411810.1:p.Ala66Pro
NM_001193304.2:c.448G>C	NP_001180233.1:p.Ala150Pro
NM_017849.3:c.448G>C , LRG_528t1:c.448G>C	NP_060319.1:p.Ala150Pro
XM_017004450.1:c.-471G>C	XP_016859939.1:n.-471G>C
XM_017004452.1:c.196G>C	XP_016859941.1:p.Ala66Pro
NM_001193304.3:c.448G>C	NP_001180233.1:p.Ala150Pro
NM_017849.4:c.448G>C MANE Select	NP_060319.1:p.Ala150Pro