Canonical Allele Identifier: CA2660175136
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96251290-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251290G>A , CM000664.2:g.96251290G>A GRCh38
NC_000002.11:g.96917028G>A , CM000664.1:g.96917028G>A GRCh37
NC_000002.10:g.96280755G>A NCBI36
NG_027695.1:g.19724C>T , LRG_528:g.19724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*2518C>T MANE Select ENSP00000258439.3:n.*2518C>T
ENST00000258439.7:c.*2518C>T ENSP00000258439.2:n.*2518C>T
NM_001193304.2:c.*2518C>T NP_001180233.1:n.*2518C>T
NM_017849.3:c.*2518C>T , LRG_528t1:c.*2518C>T NP_060319.1:n.*2518C>T
XM_017004450.1:c.*1819C>T XP_016859939.1:n.*1819C>T
XM_017004452.1:c.*2518C>T XP_016859941.1:n.*2518C>T
NM_001193304.3:c.*2518C>T NP_001180233.1:n.*2518C>T
NM_017849.4:c.*2518C>T MANE Select NP_060319.1:n.*2518C>T
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