Canonical Allele Identifier: CA2602344448
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs2104275612
gnomAD v3: 2-96251337-G-T
gnomAD v4: 2-96251337-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251337G>T , CM000664.2:g.96251337G>T GRCh38
NC_000002.11:g.96917075G>T , CM000664.1:g.96917075G>T GRCh37
NC_000002.10:g.96280802G>T NCBI36
NG_027695.1:g.19677C>A , LRG_528:g.19677C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*2471C>A MANE Select ENSP00000258439.3:n.*2471C>A
ENST00000258439.7:c.*2471C>A ENSP00000258439.2:n.*2471C>A
NM_001193304.2:c.*2471C>A NP_001180233.1:n.*2471C>A
NM_017849.3:c.*2471C>A , LRG_528t1:c.*2471C>A NP_060319.1:n.*2471C>A
XM_017004450.1:c.*1772C>A XP_016859939.1:n.*1772C>A
XM_017004452.1:c.*2471C>A XP_016859941.1:n.*2471C>A
NM_001193304.3:c.*2471C>A NP_001180233.1:n.*2471C>A
NM_017849.4:c.*2471C>A MANE Select NP_060319.1:n.*2471C>A
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