Canonical Allele Identifier: CA5705104

Gene: GFRA1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.116064452C>G , CM000672.2:g.116064452C>G	GRCh38
NC_000010.10:g.117823963C>G , CM000672.1:g.117823963C>G	GRCh37
NC_000010.9:g.117813953C>G	NCBI36
NG_050620.1:g.214194G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369234.5:c.1344G>C	ENSP00000358237.4:p.Leu448=
ENST00000439649.8:c.1329G>C	ENSP00000393725.3:p.Leu443=
ENST00000682489.1:c.*88G>C	ENSP00000508164.1:n.*88G>C
ENST00000682724.1:n.1073G>C
ENST00000682743.1:c.1329G>C	ENSP00000507970.1:p.Leu443=
ENST00000684105.1:c.1329G>C	ENSP00000506818.1:p.Leu443=
ENST00000355422.11:c.1344G>C MANE Select	ENSP00000347591.6:p.Leu448=
ENST00000355422.10:c.1344G>C	ENSP00000347591.6:p.Leu448=
ENST00000369234.4:c.1344G>C	ENSP00000358237.4:p.Leu448=
ENST00000369236.5:c.1329G>C	ENSP00000358239.1:p.Leu443=
ENST00000439649.7:c.1329G>C	ENSP00000393725.3:p.Leu443=
NM_001145453.1:c.1329G>C	NP_001138925.1:p.Leu443=
NM_005264.4:c.1344G>C	NP_005255.1:p.Leu448=
NM_145793.3:c.1329G>C	NP_665736.1:p.Leu443=
XM_005269696.1:c.1344G>C	XP_005269753.1:p.Leu448=
XM_011539634.1:c.1344G>C	XP_011537936.1:p.Leu448=
NM_001145453.2:c.1329G>C	NP_001138925.1:p.Leu443=
NM_001348096.1:c.1329G>C	NP_001335025.1:p.Leu443=
NM_001348098.1:c.1344G>C	NP_001335027.1:p.Leu448=
NM_001348099.1:c.981G>C	NP_001335028.1:p.Leu327=
NM_005264.5:c.1344G>C	NP_005255.1:p.Leu448=
NM_145793.4:c.1329G>C	NP_665736.1:p.Leu443=
XM_011539634.2:c.1344G>C	XP_011537936.1:p.Leu448=
NM_001348098.2:c.1344G>C	NP_001335027.1:p.Leu448=
NM_005264.6:c.1344G>C	NP_005255.1:p.Leu448=
NM_145793.5:c.1329G>C	NP_665736.1:p.Leu443=
NM_001145453.4:c.1329G>C	NP_001138925.1:p.Leu443=
NM_001348096.3:c.1329G>C	NP_001335025.1:p.Leu443=
NM_001348098.4:c.1344G>C	NP_001335027.1:p.Leu448=
NM_001348099.3:c.981G>C	NP_001335028.1:p.Leu327=
NM_001382556.2:c.1329G>C	NP_001369485.1:p.Leu443=
NM_001382557.2:c.1329G>C	NP_001369486.1:p.Leu443=
NM_001382558.2:c.1329G>C	NP_001369487.1:p.Leu443=
NM_001382559.2:c.1329G>C	NP_001369488.1:p.Leu443=
NM_001382560.2:c.1329G>C	NP_001369489.1:p.Leu443=
NM_001382561.2:c.1236+1121G>C	NP_001369490.1:n.1236+1121G>C
NM_005264.8:c.1344G>C MANE Select	NP_005255.1:p.Leu448=
NM_145793.7:c.1329G>C	NP_665736.1:p.Leu443=