Canonical Allele Identifier: CA10469098
Gene: TNMD HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.100594054T>C
GRCh37 chrX:g.99849051T>C
gnomAD v2:
X:99849051 T / C
gnomAD v3:
X:100594054 T / C
gnomAD v4:
chrX-100594054-T-C
Joint Max Group AF 0.64278463 (EAS)
Genomes Max Group AF 0.64603111 (EAS)
Exomes Max Group AF 0.64027053 (EAS)
dbSNP:
2073163
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100594054T>C , CM000685.2:g.100594054T>C GRCh38
NC_000023.10:g.99849051T>C , CM000685.1:g.99849051T>C GRCh37
NC_000023.9:g.99735707T>C NCBI36
NG_013266.1:g.14262T>C
NG_013266.2:g.14262T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373031.5:c.321+19T>C MANE Select ENSP00000362122.4:n.321+19T>C
ENST00000373031.4:c.321+19T>C ENSP00000362122.4:n.321+19T>C
ENST00000485971.1:n.412+19T>C
NM_022144.2:c.321+19T>C NP_071427.2:n.321+19T>C
XM_005262175.3:c.132+19T>C XP_005262232.1:n.132+19T>C
XM_005262176.1:c.321+19T>C XP_005262233.1:n.321+19T>C
XM_011531008.1:c.132+19T>C XP_011529310.1:n.132+19T>C
XM_011531009.1:c.132+19T>C XP_011529311.1:n.132+19T>C
XM_011531010.1:c.132+19T>C XP_011529312.1:n.132+19T>C
NM_022144.3:c.321+19T>C MANE Select NP_071427.2:n.321+19T>C
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