Canonical Allele Identifier: CA10645472

Gene: TMPRSS6

Linked Data

• ClinVar Variation Id: 341571
• ClinVar RCV Id: RCV000259718
• dbSNP Id: rs117575523
• gnomAD v2: 22-37461617-G-C
• gnomAD v3: 22-37065577-G-C
• gnomAD v4: 22-37065577-G-C
• MyVariant Identifiers: chr22:g.37461617G>C (hg19) ; chr22:g.37065577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37065577G>C , CM000684.2:g.37065577G>C	GRCh38
NC_000022.10:g.37461617G>C , CM000684.1:g.37461617G>C	GRCh37
NC_000022.9:g.35791563G>C	NCBI36
NG_012856.2:g.48987C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346753.9:c.*503C>G	ENSP00000334962.6:n.*503C>G
ENST00000406725.6:c.*503C>G	ENSP00000385453.1:n.*503C>G
ENST00000406856.7:c.*503C>G	ENSP00000384964.1:n.*503C>G
ENST00000676104.1:c.*503C>G MANE Select	ENSP00000501573.1:n.*503C>G
ENST00000346753.7:c.*503C>G	ENSP00000334962.5:n.*503C>G
ENST00000381792.6:c.*503C>G	ENSP00000371211.2:n.*503C>G
ENST00000406725.5:c.*503C>G	ENSP00000385453.1:n.*503C>G
ENST00000406856.5:c.*503C>G	ENSP00000384964.1:n.*503C>G
NM_001289000.1:c.*503C>G	NP_001275929.1:n.*503C>G
NM_001289001.1:c.*503C>G	NP_001275930.1:n.*503C>G
NM_153609.3:c.*503C>G	NP_705837.1:n.*503C>G
XM_006724162.1:c.*503C>G	XP_006724225.1:n.*503C>G
XM_006724163.2:c.*503C>G	XP_006724226.1:n.*503C>G
XM_011529987.1:c.*503C>G	XP_011528289.1:n.*503C>G
XM_011529988.1:c.*503C>G	XP_011528290.1:n.*503C>G
XM_011529989.1:c.*503C>G	XP_011528291.1:n.*503C>G
XM_011529989.2:c.*503C>G	XP_011528291.1:n.*503C>G
XM_024452167.1:c.*503C>G	XP_024307935.1:n.*503C>G
XM_024452168.1:c.*503C>G	XP_024307936.1:n.*503C>G
XM_024452169.1:c.*503C>G	XP_024307937.1:n.*503C>G
XM_024452170.1:c.*503C>G	XP_024307938.1:n.*503C>G
XM_024452171.1:c.*503C>G	XP_024307939.1:n.*503C>G
NM_001289000.2:c.*503C>G	NP_001275929.1:n.*503C>G
NM_001289001.2:c.*503C>G	NP_001275930.1:n.*503C>G
NM_001374504.1:c.*503C>G MANE Select	NP_001361433.1:n.*503C>G
NM_153609.4:c.*503C>G	NP_705837.2:n.*503C>G