Canonical Allele Identifier: CA2448039609
Gene: TNMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100598284C>G , CM000685.2:g.100598284C>G GRCh38
NC_000023.10:g.99853281C>G , CM000685.1:g.99853281C>G GRCh37
NC_000023.9:g.99739937C>G NCBI36
NG_013266.1:g.18492C>G
NG_013266.2:g.18492C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373031.5:c.577+627C>G MANE Select ENSP00000362122.4:n.577+627C>G
ENST00000373031.4:c.577+627C>G ENSP00000362122.4:n.577+627C>G
NM_022144.2:c.577+627C>G NP_071427.2:n.577+627C>G
XM_005262175.3:c.388+627C>G XP_005262232.1:n.388+627C>G
XM_005262176.1:c.577+627C>G XP_005262233.1:n.577+627C>G
XM_011531008.1:c.388+627C>G XP_011529310.1:n.388+627C>G
XM_011531009.1:c.388+627C>G XP_011529311.1:n.388+627C>G
XM_011531010.1:c.388+627C>G XP_011529312.1:n.388+627C>G
NM_022144.3:c.577+627C>G MANE Select NP_071427.2:n.577+627C>G