Canonical Allele Identifier: CA411424324

Gene: TMPRSS6

Linked Data

• dbSNP Id: rs1228959470
• gnomAD v3: 22-37084345-C-G
• gnomAD v4: 22-37084345-C-G
• MyVariant Identifiers: chr22:g.37480385C>G (hg19) ; chr22:g.37084345C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37084345C>G , CM000684.2:g.37084345C>G	GRCh38
NC_000022.10:g.37480385C>G , CM000684.1:g.37480385C>G	GRCh37
NC_000022.9:g.35810331C>G	NCBI36
NG_012856.2:g.30219G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000346753.9:c.1146G>C	ENSP00000334962.6:p.Gln382His
ENST00000406725.6:c.1146G>C	ENSP00000385453.1:p.Gln382His
ENST00000406856.7:c.1146G>C	ENSP00000384964.1:p.Gln382His
ENST00000442782.7:c.1146G>C	ENSP00000397691.3:p.Gln382His
ENST00000676104.1:c.1146G>C MANE Select	ENSP00000501573.1:p.Gln382His
ENST00000346753.7:c.1173G>C	ENSP00000334962.5:p.Gln391His
ENST00000381792.6:c.1146G>C	ENSP00000371211.2:p.Gln382His
ENST00000406725.5:c.1146G>C	ENSP00000385453.1:p.Gln382His
ENST00000406856.5:c.1146G>C	ENSP00000384964.1:p.Gln382His
ENST00000429068.1:c.159G>C	ENSP00000392433.1:p.Gln53His
ENST00000442782.6:c.1173G>C	ENSP00000397691.2:p.Gln391His
NM_001289000.1:c.1146G>C	NP_001275929.1:p.Gln382His
NM_001289001.1:c.1146G>C	NP_001275930.1:p.Gln382His
NM_153609.3:c.1173G>C	NP_705837.1:p.Gln391His
XM_006724162.1:c.1146G>C	XP_006724225.1:p.Gln382His
XM_006724163.2:c.1146G>C	XP_006724226.1:p.Gln382His
XM_011529987.1:c.1146G>C	XP_011528289.1:p.Gln382His
XM_011529988.1:c.1146G>C	XP_011528290.1:p.Gln382His
XM_011529989.1:c.714G>C	XP_011528291.1:p.Gln238His
XM_011529989.2:c.714G>C	XP_011528291.1:p.Gln238His
XM_024452167.1:c.1146G>C	XP_024307935.1:p.Gln382His
XM_024452168.1:c.1146G>C	XP_024307936.1:p.Gln382His
XM_024452169.1:c.1146G>C	XP_024307937.1:p.Gln382His
XM_024452170.1:c.1146G>C	XP_024307938.1:p.Gln382His
XM_024452171.1:c.1146G>C	XP_024307939.1:p.Gln382His
NM_001289000.2:c.1146G>C	NP_001275929.1:p.Gln382His
NM_001289001.2:c.1146G>C	NP_001275930.1:p.Gln382His
NM_001374504.1:c.1146G>C MANE Select	NP_001361433.1:p.Gln382His
NM_153609.4:c.1146G>C	NP_705837.2:p.Gln382His