Canonical Allele Identifier: CA1033956975
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs1684071737
gnomAD v3: 2-96250798-T-G
gnomAD v4: 2-96250798-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96250798T>G , CM000664.2:g.96250798T>G GRCh38
NC_000002.11:g.96916536T>G , CM000664.1:g.96916536T>G GRCh37
NC_000002.10:g.96280263T>G NCBI36
NG_027695.1:g.20216A>C , LRG_528:g.20216A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*3010A>C MANE Select ENSP00000258439.3:n.*3010A>C
ENST00000258439.7:c.*3010A>C ENSP00000258439.2:n.*3010A>C
NM_001193304.2:c.*3010A>C NP_001180233.1:n.*3010A>C
NM_017849.3:c.*3010A>C , LRG_528t1:c.*3010A>C NP_060319.1:n.*3010A>C
XM_017004450.1:c.*2311A>C XP_016859939.1:n.*2311A>C
XM_017004452.1:c.*3010A>C XP_016859941.1:n.*3010A>C
NM_001193304.3:c.*3010A>C NP_001180233.1:n.*3010A>C
NM_017849.4:c.*3010A>C MANE Select NP_060319.1:n.*3010A>C