Canonical Allele Identifier: CA2656489242

Gene: TMPRSS6

Linked Data

• gnomAD v4: 22-37084240-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37084240A>T , CM000684.2:g.37084240A>T	GRCh38
NC_000022.10:g.37480280A>T , CM000684.1:g.37480280A>T	GRCh37
NC_000022.9:g.35810226A>T	NCBI36
NG_012856.2:g.30324T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346753.9:c.1196+55T>A	ENSP00000334962.6:n.1196+55T>A
ENST00000406725.6:c.1196+55T>A	ENSP00000385453.1:n.1196+55T>A
ENST00000406856.7:c.1196+55T>A	ENSP00000384964.1:n.1196+55T>A
ENST00000442782.7:c.1251T>A	ENSP00000397691.3:p.Leu417=
ENST00000676104.1:c.1196+55T>A MANE Select	ENSP00000501573.1:n.1196+55T>A
ENST00000346753.7:c.1223+55T>A	ENSP00000334962.5:n.1223+55T>A
ENST00000381792.6:c.1196+55T>A	ENSP00000371211.2:n.1196+55T>A
ENST00000406725.5:c.1196+55T>A	ENSP00000385453.1:n.1196+55T>A
ENST00000406856.5:c.1196+55T>A	ENSP00000384964.1:n.1196+55T>A
ENST00000429068.1:c.209+55T>A	ENSP00000392433.1:n.209+55T>A
ENST00000442782.6:c.1278T>A	ENSP00000397691.2:p.Leu426=
NM_001289000.1:c.1196+55T>A	NP_001275929.1:n.1196+55T>A
NM_001289001.1:c.1196+55T>A	NP_001275930.1:n.1196+55T>A
NM_153609.3:c.1223+55T>A	NP_705837.1:n.1223+55T>A
XM_006724162.1:c.1196+55T>A	XP_006724225.1:n.1196+55T>A
XM_006724163.2:c.1196+55T>A	XP_006724226.1:n.1196+55T>A
XM_011529987.1:c.1196+55T>A	XP_011528289.1:n.1196+55T>A
XM_011529988.1:c.1196+55T>A	XP_011528290.1:n.1196+55T>A
XM_011529989.1:c.764+55T>A	XP_011528291.1:n.764+55T>A
XM_011529989.2:c.764+55T>A	XP_011528291.1:n.764+55T>A
XM_024452167.1:c.1196+55T>A	XP_024307935.1:n.1196+55T>A
XM_024452168.1:c.1196+55T>A	XP_024307936.1:n.1196+55T>A
XM_024452169.1:c.1196+55T>A	XP_024307937.1:n.1196+55T>A
XM_024452170.1:c.1196+55T>A	XP_024307938.1:n.1196+55T>A
XM_024452171.1:c.1196+55T>A	XP_024307939.1:n.1196+55T>A
NM_001289000.2:c.1196+55T>A	NP_001275929.1:n.1196+55T>A
NM_001289001.2:c.1196+55T>A	NP_001275930.1:n.1196+55T>A
NM_001374504.1:c.1196+55T>A MANE Select	NP_001361433.1:n.1196+55T>A
NM_153609.4:c.1196+55T>A	NP_705837.2:n.1196+55T>A