Canonical Allele Identifier: CA2660174867
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96250699-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96250699A>G , CM000664.2:g.96250699A>G GRCh38
NC_000002.11:g.96916437A>G , CM000664.1:g.96916437A>G GRCh37
NC_000002.10:g.96280164A>G NCBI36
NG_027695.1:g.20315T>C , LRG_528:g.20315T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*3109T>C MANE Select ENSP00000258439.3:n.*3109T>C
ENST00000258439.7:c.*3109T>C ENSP00000258439.2:n.*3109T>C
NM_001193304.2:c.*3109T>C NP_001180233.1:n.*3109T>C
NM_017849.3:c.*3109T>C , LRG_528t1:c.*3109T>C NP_060319.1:n.*3109T>C
XM_017004450.1:c.*2410T>C XP_016859939.1:n.*2410T>C
XM_017004452.1:c.*3109T>C XP_016859941.1:n.*3109T>C
NM_001193304.3:c.*3109T>C NP_001180233.1:n.*3109T>C
NM_017849.4:c.*3109T>C MANE Select NP_060319.1:n.*3109T>C