Canonical Allele Identifier: CA2580068319
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 2117516
ClinVar RCV Id: RCV003039238
gnomAD v4: 2-96254124-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254124C>T , CM000664.2:g.96254124C>T GRCh38
NC_000002.11:g.96919862C>T , CM000664.1:g.96919862C>T GRCh37
NC_000002.10:g.96283589C>T NCBI36
NG_027695.1:g.16890G>A , LRG_528:g.16890G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.410-9G>A MANE Select ENSP00000258439.3:n.410-9G>A
ENST00000258439.7:c.410-9G>A ENSP00000258439.2:n.410-9G>A
ENST00000432959.1:c.410-9G>A ENSP00000416660.1:n.410-9G>A
ENST00000435268.1:c.158-9G>A ENSP00000411810.1:n.158-9G>A
NM_001193304.2:c.410-9G>A NP_001180233.1:n.410-9G>A
NM_017849.3:c.410-9G>A , LRG_528t1:c.410-9G>A NP_060319.1:n.410-9G>A
XM_017004450.1:c.-509-9G>A XP_016859939.1:n.-509-9G>A
XM_017004452.1:c.158-9G>A XP_016859941.1:n.158-9G>A
NM_001193304.3:c.410-9G>A NP_001180233.1:n.410-9G>A
NM_017849.4:c.410-9G>A MANE Select NP_060319.1:n.410-9G>A
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