Canonical Allele Identifier: CA167272

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 142056
• ClinVar RCV Id: RCV000130864 ; RCV000415718 ; RCV000466516
• dbSNP Id: rs587782203
• ExAC: 2:96920582 T / C
• gnomAD v2: 2-96920582-T-C
• gnomAD v3: 2-96254844-T-C
• gnomAD v4: 2-96254844-T-C
• MyVariant Identifiers: chr2:g.96920582T>C (hg19) ; chr2:g.96254844T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254844T>C , CM000664.2:g.96254844T>C	GRCh38
NC_000002.11:g.96920582T>C , CM000664.1:g.96920582T>C	GRCh37
NC_000002.10:g.96284309T>C	NCBI36
NG_027695.1:g.16170A>G , LRG_528:g.16170A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.398A>G MANE Select	ENSP00000258439.3:p.His133Arg
ENST00000258439.7:c.398A>G	ENSP00000258439.2:p.His133Arg
ENST00000432959.1:c.398A>G	ENSP00000416660.1:p.His133Arg
ENST00000435268.1:c.146A>G	ENSP00000411810.1:p.His49Arg
NM_001193304.2:c.398A>G	NP_001180233.1:p.His133Arg
NM_017849.3:c.398A>G , LRG_528t1:c.398A>G	NP_060319.1:p.His133Arg
XM_017004450.1:c.-521A>G	XP_016859939.1:n.-521A>G
XM_017004452.1:c.146A>G	XP_016859941.1:p.His49Arg
NM_001193304.3:c.398A>G	NP_001180233.1:p.His133Arg
NM_017849.4:c.398A>G MANE Select	NP_060319.1:p.His133Arg