Canonical Allele Identifier: CA10215663
Gene: TMPRSS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2213060
ClinVar RCV Id: RCV002656049
dbSNP Id: rs756792962

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37075167C>T , CM000684.2:g.37075167C>T GRCh38
NC_000022.10:g.37471207C>T , CM000684.1:g.37471207C>T GRCh37
NC_000022.9:g.35801153C>T NCBI36
NG_012856.2:g.39397G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000346753.9:c.1310G>A ENSP00000334962.6:p.Arg437Gln
ENST00000406725.6:c.1310G>A ENSP00000385453.1:p.Arg437Gln
ENST00000406856.7:c.1310G>A ENSP00000384964.1:p.Arg437Gln
ENST00000676104.1:c.1310G>A MANE Select ENSP00000501573.1:p.Arg437Gln
ENST00000346753.7:c.1337G>A ENSP00000334962.5:p.Arg446Gln
ENST00000381792.6:c.1310G>A ENSP00000371211.2:p.Arg437Gln
ENST00000406725.5:c.1310G>A ENSP00000385453.1:p.Arg437Gln
ENST00000406856.5:c.1310G>A ENSP00000384964.1:p.Arg437Gln
NM_001289000.1:c.1310G>A NP_001275929.1:p.Arg437Gln
NM_001289001.1:c.1310G>A NP_001275930.1:p.Arg437Gln
NM_153609.3:c.1337G>A NP_705837.1:p.Arg446Gln
XM_006724162.1:c.1310G>A XP_006724225.1:p.Arg437Gln
XM_006724163.2:c.1310G>A XP_006724226.1:p.Arg437Gln
XM_011529987.1:c.1310G>A XP_011528289.1:p.Arg437Gln
XM_011529988.1:c.1310G>A XP_011528290.1:p.Arg437Gln
XM_011529989.1:c.878G>A XP_011528291.1:p.Arg293Gln
XM_011529989.2:c.878G>A XP_011528291.1:p.Arg293Gln
XM_024452167.1:c.1310G>A XP_024307935.1:p.Arg437Gln
XM_024452168.1:c.1310G>A XP_024307936.1:p.Arg437Gln
XM_024452169.1:c.1310G>A XP_024307937.1:p.Arg437Gln
XM_024452170.1:c.1310G>A XP_024307938.1:p.Arg437Gln
XM_024452171.1:c.1310G>A XP_024307939.1:p.Arg437Gln
NM_001289000.2:c.1310G>A NP_001275929.1:p.Arg437Gln
NM_001289001.2:c.1310G>A NP_001275930.1:p.Arg437Gln
NM_001374504.1:c.1310G>A MANE Select NP_001361433.1:p.Arg437Gln
NM_153609.4:c.1310G>A NP_705837.2:p.Arg437Gln