Canonical Allele Identifier: CA347653054

Gene: TMEM127

Linked Data

• MyVariant Identifiers: chr2:g.96919821A>C (hg19) ; chr2:g.96254083A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254083A>C , CM000664.2:g.96254083A>C	GRCh38
NC_000002.11:g.96919821A>C , CM000664.1:g.96919821A>C	GRCh37
NC_000002.10:g.96283548A>C	NCBI36
NG_027695.1:g.16931T>G , LRG_528:g.16931T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.442T>G MANE Select	ENSP00000258439.3:p.Tyr148Asp
ENST00000258439.7:c.442T>G	ENSP00000258439.2:p.Tyr148Asp
ENST00000432959.1:c.442T>G	ENSP00000416660.1:p.Tyr148Asp
ENST00000435268.1:c.190T>G	ENSP00000411810.1:p.Tyr64Asp
NM_001193304.2:c.442T>G	NP_001180233.1:p.Tyr148Asp
NM_017849.3:c.442T>G , LRG_528t1:c.442T>G	NP_060319.1:p.Tyr148Asp
XM_017004450.1:c.-477T>G	XP_016859939.1:n.-477T>G
XM_017004452.1:c.190T>G	XP_016859941.1:p.Tyr64Asp
NM_001193304.3:c.442T>G	NP_001180233.1:p.Tyr148Asp
NM_017849.4:c.442T>G MANE Select	NP_060319.1:p.Tyr148Asp