Canonical Allele Identifier: CA411421989

Gene: TMPRSS6

Linked Data

• MyVariant Identifiers: chr22:g.37471228G>A (hg19) ; chr22:g.37075188G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37075188G>A , CM000684.2:g.37075188G>A	GRCh38
NC_000022.10:g.37471228G>A , CM000684.1:g.37471228G>A	GRCh37
NC_000022.9:g.35801174G>A	NCBI36
NG_012856.2:g.39376C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346753.9:c.1289C>T	ENSP00000334962.6:p.Ser430Phe
ENST00000406725.6:c.1289C>T	ENSP00000385453.1:p.Ser430Phe
ENST00000406856.7:c.1289C>T	ENSP00000384964.1:p.Ser430Phe
ENST00000676104.1:c.1289C>T MANE Select	ENSP00000501573.1:p.Ser430Phe
ENST00000346753.7:c.1316C>T	ENSP00000334962.5:p.Ser439Phe
ENST00000381792.6:c.1289C>T	ENSP00000371211.2:p.Ser430Phe
ENST00000406725.5:c.1289C>T	ENSP00000385453.1:p.Ser430Phe
ENST00000406856.5:c.1289C>T	ENSP00000384964.1:p.Ser430Phe
NM_001289000.1:c.1289C>T	NP_001275929.1:p.Ser430Phe
NM_001289001.1:c.1289C>T	NP_001275930.1:p.Ser430Phe
NM_153609.3:c.1316C>T	NP_705837.1:p.Ser439Phe
XM_006724162.1:c.1289C>T	XP_006724225.1:p.Ser430Phe
XM_006724163.2:c.1289C>T	XP_006724226.1:p.Ser430Phe
XM_011529987.1:c.1289C>T	XP_011528289.1:p.Ser430Phe
XM_011529988.1:c.1289C>T	XP_011528290.1:p.Ser430Phe
XM_011529989.1:c.857C>T	XP_011528291.1:p.Ser286Phe
XM_011529989.2:c.857C>T	XP_011528291.1:p.Ser286Phe
XM_024452167.1:c.1289C>T	XP_024307935.1:p.Ser430Phe
XM_024452168.1:c.1289C>T	XP_024307936.1:p.Ser430Phe
XM_024452169.1:c.1289C>T	XP_024307937.1:p.Ser430Phe
XM_024452170.1:c.1289C>T	XP_024307938.1:p.Ser430Phe
XM_024452171.1:c.1289C>T	XP_024307939.1:p.Ser430Phe
NM_001289000.2:c.1289C>T	NP_001275929.1:p.Ser430Phe
NM_001289001.2:c.1289C>T	NP_001275930.1:p.Ser430Phe
NM_001374504.1:c.1289C>T MANE Select	NP_001361433.1:p.Ser430Phe
NM_153609.4:c.1289C>T	NP_705837.2:p.Ser430Phe