Canonical Allele Identifier: CA1033957021

Gene: TMEM127

Linked Data

• dbSNP Id: rs1209930971
• gnomAD v3: 2-96250939-GA-G
• gnomAD v4: 2-96250939-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96250946del , CM000664.2:g.96250946del	GRCh38
NC_000002.11:g.96916684del , CM000664.1:g.96916684del	GRCh37
NC_000002.10:g.96280411del	NCBI36
NG_027695.1:g.20074del , LRG_528:g.20074del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2868del MANE Select	ENSP00000258439.3:n.*2868del
ENST00000258439.7:c.*2868del	ENSP00000258439.2:n.*2868del
NM_001193304.2:c.*2868del	NP_001180233.1:n.*2868del
NM_017849.3:c.*2868del , LRG_528t1:c.*2868del	NP_060319.1:n.*2868del
XM_017004450.1:c.*2169del	XP_016859939.1:n.*2169del
XM_017004452.1:c.*2868del	XP_016859941.1:n.*2868del
NM_001193304.3:c.*2868del	NP_001180233.1:n.*2868del
NM_017849.4:c.*2868del MANE Select	NP_060319.1:n.*2868del