Canonical Allele Identifier: CA2602344453

Gene: TMEM127

Linked Data

• dbSNP Id: rs1684096961
• gnomAD v3: 2-96251783-A-C
• gnomAD v4: 2-96251783-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251783A>C , CM000664.2:g.96251783A>C	GRCh38
NC_000002.11:g.96917521A>C , CM000664.1:g.96917521A>C	GRCh37
NC_000002.10:g.96281248A>C	NCBI36
NG_027695.1:g.19231T>G , LRG_528:g.19231T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2025T>G MANE Select	ENSP00000258439.3:n.*2025T>G
ENST00000258439.7:c.*2025T>G	ENSP00000258439.2:n.*2025T>G
ENST00000432959.1:c.*2025T>G	ENSP00000416660.1:n.*2025T>G
NM_001193304.2:c.*2025T>G	NP_001180233.1:n.*2025T>G
NM_017849.3:c.*2025T>G , LRG_528t1:c.*2025T>G	NP_060319.1:n.*2025T>G
XM_017004450.1:c.*1326T>G	XP_016859939.1:n.*1326T>G
XM_017004452.1:c.*2025T>G	XP_016859941.1:n.*2025T>G
NM_001193304.3:c.*2025T>G	NP_001180233.1:n.*2025T>G
NM_017849.4:c.*2025T>G MANE Select	NP_060319.1:n.*2025T>G