Canonical Allele Identifier: CA1272521090
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs1573967307
gnomAD v4: 2-96251579-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251579G>A , CM000664.2:g.96251579G>A GRCh38
NC_000002.11:g.96917317G>A , CM000664.1:g.96917317G>A GRCh37
NC_000002.10:g.96281044G>A NCBI36
NG_027695.1:g.19435C>T , LRG_528:g.19435C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*2229C>T MANE Select ENSP00000258439.3:n.*2229C>T
ENST00000258439.7:c.*2229C>T ENSP00000258439.2:n.*2229C>T
NM_001193304.2:c.*2229C>T NP_001180233.1:n.*2229C>T
NM_017849.3:c.*2229C>T , LRG_528t1:c.*2229C>T NP_060319.1:n.*2229C>T
XM_017004450.1:c.*1530C>T XP_016859939.1:n.*1530C>T
XM_017004452.1:c.*2229C>T XP_016859941.1:n.*2229C>T
NM_001193304.3:c.*2229C>T NP_001180233.1:n.*2229C>T
NM_017849.4:c.*2229C>T MANE Select NP_060319.1:n.*2229C>T