Canonical Allele Identifier: CA947556259

Gene: FAM186A

Linked Data

• dbSNP Id: rs1943024049
• gnomAD v3: 12-50360692-T-G
• gnomAD v4: 12-50360692-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50360692T>G , CM000674.2:g.50360692T>G	GRCh38
NC_000012.11:g.50754475T>G , CM000674.1:g.50754475T>G	GRCh37
NC_000012.10:g.49040742T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000327337.6:c.583+64A>C MANE Select	ENSP00000329995.5:n.583+64A>C
ENST00000327337.5:c.583+64A>C	ENSP00000329995.5:n.583+64A>C
ENST00000543111.5:c.583+64A>C	ENSP00000441337.1:n.583+64A>C
NM_001145475.1:c.583+64A>C	NP_001138947.1:n.583+64A>C
XM_006719231.2:c.583+64A>C	XP_006719294.1:n.583+64A>C
XM_011537890.1:c.583+64A>C	XP_011536192.1:n.583+64A>C
XM_011537891.1:c.412+2453A>C	XP_011536193.1:n.412+2453A>C
XM_011537892.1:c.154+64A>C	XP_011536194.1:n.154+64A>C
NM_001145475.2:c.583+64A>C	NP_001138947.1:n.583+64A>C
XM_006719231.3:c.583+64A>C	XP_006719294.1:n.583+64A>C
XM_011537890.2:c.583+64A>C	XP_011536192.1:n.583+64A>C
NM_001145475.3:c.583+64A>C MANE Select	NP_001138947.1:n.583+64A>C