Canonical Allele Identifier: CA11162493
Gene: TMEM163 HGNC NCBI
dbSNP:
10179686
gnomAD v2:
2:135214570 C / T
gnomAD v3:
2:134456999 C / T
gnomAD v4:
chr2-134456999-C-T
Joint Max Group AF 0.24018281 (EAS)
Genomes Max Group AF 0.24018281 (EAS)
MyVariant.info:
GRCh38 chr2:g.134456999C>T
GRCh37 chr2:g.135214570C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.134456999C>T , CM000664.2:g.134456999C>T GRCh38
NC_000002.11:g.135214570C>T , CM000664.1:g.135214570C>T GRCh37
NC_000002.10:g.134931040C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281924.6:c.810-223G>A MANE Select ENSP00000281924.6:n.810-223G>A
ENST00000467316.1:n.1244-223G>A
ENST00000476823.1:n.4066-223G>A
NM_030923.4:c.810-223G>A NP_112185.1:n.810-223G>A
XM_011511949.1:c.630-223G>A XP_011510251.1:n.630-223G>A
XM_011511950.1:c.477-223G>A XP_011510252.1:n.477-223G>A
XM_011511950.2:c.477-223G>A XP_011510252.1:n.477-223G>A
XM_017005061.1:c.477-223G>A XP_016860550.1:n.477-223G>A
NM_030923.5:c.810-223G>A MANE Select NP_112185.1:n.810-223G>A
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