Canonical Allele Identifier: CA2448039594
Gene: TNMD HGNC NCBI

Linked Data

dbSNP Id: rs2082958337

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100598229T>A , CM000685.2:g.100598229T>A GRCh38
NC_000023.10:g.99853226T>A , CM000685.1:g.99853226T>A GRCh37
NC_000023.9:g.99739882T>A NCBI36
NG_013266.1:g.18437T>A
NG_013266.2:g.18437T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373031.5:c.577+572T>A MANE Select ENSP00000362122.4:n.577+572T>A
ENST00000373031.4:c.577+572T>A ENSP00000362122.4:n.577+572T>A
NM_022144.2:c.577+572T>A NP_071427.2:n.577+572T>A
XM_005262175.3:c.388+572T>A XP_005262232.1:n.388+572T>A
XM_005262176.1:c.577+572T>A XP_005262233.1:n.577+572T>A
XM_011531008.1:c.388+572T>A XP_011529310.1:n.388+572T>A
XM_011531009.1:c.388+572T>A XP_011529311.1:n.388+572T>A
XM_011531010.1:c.388+572T>A XP_011529312.1:n.388+572T>A
NM_022144.3:c.577+572T>A MANE Select NP_071427.2:n.577+572T>A