Canonical Allele Identifier: CA2660175387
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96251518-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251518G>A , CM000664.2:g.96251518G>A GRCh38
NC_000002.11:g.96917256G>A , CM000664.1:g.96917256G>A GRCh37
NC_000002.10:g.96280983G>A NCBI36
NG_027695.1:g.19496C>T , LRG_528:g.19496C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*2290C>T MANE Select ENSP00000258439.3:n.*2290C>T
ENST00000258439.7:c.*2290C>T ENSP00000258439.2:n.*2290C>T
NM_001193304.2:c.*2290C>T NP_001180233.1:n.*2290C>T
NM_017849.3:c.*2290C>T , LRG_528t1:c.*2290C>T NP_060319.1:n.*2290C>T
XM_017004450.1:c.*1591C>T XP_016859939.1:n.*1591C>T
XM_017004452.1:c.*2290C>T XP_016859941.1:n.*2290C>T
NM_001193304.3:c.*2290C>T NP_001180233.1:n.*2290C>T
NM_017849.4:c.*2290C>T MANE Select NP_060319.1:n.*2290C>T
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