Canonical Allele Identifier: CA2448038339
Gene: TNMD HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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