Canonical Allele Identifier: CA384809279

Gene: FAM186A

Linked Data

• dbSNP Id: rs12303082
• gnomAD v4: 12-50360780-T-A
• MyVariant Identifiers: chr12:g.50754563T>A (hg19) ; chr12:g.50360780T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50360780T>A , CM000674.2:g.50360780T>A	GRCh38
NC_000012.11:g.50754563T>A , CM000674.1:g.50754563T>A	GRCh37
NC_000012.10:g.49040830T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000327337.6:c.559A>T MANE Select	ENSP00000329995.5:p.Lys187Ter
ENST00000327337.5:c.559A>T	ENSP00000329995.5:p.Lys187Ter
ENST00000543111.5:c.559A>T	ENSP00000441337.1:p.Lys187Ter
NM_001145475.1:c.559A>T	NP_001138947.1:p.Lys187Ter
XM_006719231.2:c.559A>T	XP_006719294.1:p.Lys187Ter
XM_011537890.1:c.559A>T	XP_011536192.1:p.Lys187Ter
XM_011537891.1:c.412+2365A>T	XP_011536193.1:n.412+2365A>T
XM_011537892.1:c.130A>T	XP_011536194.1:p.Lys44Ter
NM_001145475.2:c.559A>T	NP_001138947.1:p.Lys187Ter
XM_006719231.3:c.559A>T	XP_006719294.1:p.Lys187Ter
XM_011537890.2:c.559A>T	XP_011536192.1:p.Lys187Ter
NM_001145475.3:c.559A>T MANE Select	NP_001138947.1:p.Lys187Ter