Canonical Allele Identifier: CA427495379

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2496963
• ClinVar RCV Id: RCV003216540 ; RCV003779762
• gnomAD v4: 2-96254843-A-G
• MyVariant Identifiers: chr2:g.96920581A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254843A>G , CM000664.2:g.96254843A>G	GRCh38
NC_000002.11:g.96920581A>G , CM000664.1:g.96920581A>G	GRCh37
NC_000002.10:g.96284308A>G	NCBI36
NG_027695.1:g.16171T>C , LRG_528:g.16171T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.399T>C MANE Select	ENSP00000258439.3:p.His133=
ENST00000258439.7:c.399T>C	ENSP00000258439.2:p.His133=
ENST00000432959.1:c.399T>C	ENSP00000416660.1:p.His133=
ENST00000435268.1:c.147T>C	ENSP00000411810.1:p.His49=
NM_001193304.2:c.399T>C	NP_001180233.1:p.His133=
NM_017849.3:c.399T>C , LRG_528t1:c.399T>C	NP_060319.1:p.His133=
XM_017004450.1:c.-520T>C	XP_016859939.1:n.-520T>C
XM_017004452.1:c.147T>C	XP_016859941.1:p.His49=
NM_001193304.3:c.399T>C	NP_001180233.1:p.His133=
NM_017849.4:c.399T>C MANE Select	NP_060319.1:p.His133=