Canonical Allele Identifier: CA373897158

Gene: FRMD3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.83311905C>G , CM000671.2:g.83311905C>G	GRCh38
NC_000009.11:g.85926820C>G , CM000671.1:g.85926820C>G	GRCh37
NC_000009.10:g.85116640C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_174938.6:c.755G>C MANE Select	NP_777598.3:p.Arg252Thr
ENST00000304195.8:c.755G>C MANE Select	ENSP00000303508.3:p.Arg252Thr
NM_001244959.1:c.755G>C	NP_001231888.1:p.Arg252Thr
NM_001244959.2:c.755G>C	NP_001231888.1:p.Arg252Thr
NM_001244960.1:c.623G>C	NP_001231889.1:p.Arg208Thr
NM_001244960.2:c.623G>C	NP_001231889.1:p.Arg208Thr
NM_001244961.1:c.173G>C	NP_001231890.1:p.Arg58Thr
NM_001244961.2:c.173G>C	NP_001231890.1:p.Arg58Thr
NM_174938.5:c.755G>C	NP_777598.3:p.Arg252Thr
ENST00000304195.7:c.755G>C	ENSP00000303508.3:p.Arg252Thr
ENST00000376434.5:c.173G>C	ENSP00000365617.1:p.Arg58Thr
ENST00000376438.5:c.755G>C	ENSP00000365621.1:p.Arg252Thr
ENST00000431299.1:c.62G>C	ENSP00000412719.1:p.Arg21Thr
ENST00000621208.4:c.623G>C	ENSP00000484839.1:p.Arg208Thr
XM_005251882.1:c.467G>C	XP_005251939.1:p.Arg156Thr
XM_011518476.1:c.755G>C	XP_011516778.1:p.Arg252Thr
XM_017014588.1:c.632G>C	XP_016870077.1:p.Arg211Thr
XM_017014589.1:c.173G>C	XP_016870078.1:p.Arg58Thr
XM_024447487.1:c.467G>C	XP_024303255.1:p.Arg156Thr
XM_024447488.1:c.467G>C	XP_024303256.1:p.Arg156Thr
XM_024447489.1:c.467G>C	XP_024303257.1:p.Arg156Thr