Canonical Allele Identifier: CA52410391

Gene: TMEM127

Linked Data

• dbSNP Id: rs1006543744
• gnomAD v4: 2-96251611-T-C
• MyVariant Identifiers: chr2:g.96917349T>C (hg19) ; chr2:g.96251611T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251611T>C , CM000664.2:g.96251611T>C	GRCh38
NC_000002.11:g.96917349T>C , CM000664.1:g.96917349T>C	GRCh37
NC_000002.10:g.96281076T>C	NCBI36
NG_027695.1:g.19403A>G , LRG_528:g.19403A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2197A>G MANE Select	ENSP00000258439.3:n.*2197A>G
ENST00000258439.7:c.*2197A>G	ENSP00000258439.2:n.*2197A>G
NM_001193304.2:c.*2197A>G	NP_001180233.1:n.*2197A>G
NM_017849.3:c.*2197A>G , LRG_528t1:c.*2197A>G	NP_060319.1:n.*2197A>G
XM_017004450.1:c.*1498A>G	XP_016859939.1:n.*1498A>G
XM_017004452.1:c.*2197A>G	XP_016859941.1:n.*2197A>G
NM_001193304.3:c.*2197A>G	NP_001180233.1:n.*2197A>G
NM_017849.4:c.*2197A>G MANE Select	NP_060319.1:n.*2197A>G