Canonical Allele Identifier: CA2660174822
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96250605-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96250605C>T , CM000664.2:g.96250605C>T GRCh38
NC_000002.11:g.96916343C>T , CM000664.1:g.96916343C>T GRCh37
NC_000002.10:g.96280070C>T NCBI36
NG_027695.1:g.20409G>A , LRG_528:g.20409G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*3203G>A MANE Select ENSP00000258439.3:n.*3203G>A
ENST00000258439.7:c.*3203G>A ENSP00000258439.2:n.*3203G>A
NM_001193304.2:c.*3203G>A NP_001180233.1:n.*3203G>A
NM_017849.3:c.*3203G>A , LRG_528t1:c.*3203G>A NP_060319.1:n.*3203G>A
XM_017004450.1:c.*2504G>A XP_016859939.1:n.*2504G>A
XM_017004452.1:c.*3203G>A XP_016859941.1:n.*3203G>A
NM_001193304.3:c.*3203G>A NP_001180233.1:n.*3203G>A
NM_017849.4:c.*3203G>A MANE Select NP_060319.1:n.*3203G>A