Canonical Allele Identifier: CA2939715

Gene: TMPRSS11A

Linked Data

• dbSNP Id: rs773216826
• ExAC: 4:68797723 A / G
• gnomAD v2: 4-68797723-A-G
• gnomAD v4: 4-67932005-A-G
• MyVariant Identifiers: chr4:g.68797723A>G (hg19) ; chr4:g.67932005A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67932005A>G , CM000666.2:g.67932005A>G	GRCh38
NC_000004.11:g.68797723A>G , CM000666.1:g.68797723A>G	GRCh37
NC_000004.10:g.68480318A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508048.6:c.308T>C MANE Select	ENSP00000426911.2:p.Val103Ala
ENST00000334830.11:c.317T>C	ENSP00000334611.7:p.Val106Ala
ENST00000396188.3:c.308T>C	ENSP00000379491.3:p.Val103Ala
ENST00000508048.5:c.308T>C	ENSP00000426911.2:p.Val103Ala
ENST00000513536.5:c.248T>C	ENSP00000427621.1:p.Val83Ala
NM_001114387.1:c.308T>C	NP_001107859.1:p.Val103Ala
NM_182606.3:c.317T>C	NP_872412.3:p.Val106Ala
NM_001114387.2:c.308T>C MANE Select	NP_001107859.1:p.Val103Ala
NM_182606.4:c.317T>C	NP_872412.3:p.Val106Ala