Canonical Allele Identifier: CA174390

Gene: GFRA3

Linked Data

• ClinVar Variation Id: 161581
• ClinVar RCV Id: RCV000149116
• dbSNP Id: rs193921100
• gnomAD v4: 5-138253036-G-T
• COSMIC: COSM5521437
• MyVariant Identifiers: chr5:g.137588725G>T (hg19) ; chr5:g.138253036G>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138253036G>T , CM000667.2:g.138253036G>T	GRCh38
NC_000005.9:g.137588725G>T , CM000667.1:g.137588725G>T	GRCh37
NC_000005.8:g.137616624G>T	NCBI36
NG_046894.1:g.26529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274721.8:c.1135C>A MANE Select	ENSP00000274721.3:p.Pro379Thr
ENST00000274721.7:c.1135C>A	ENSP00000274721.3:p.Pro379Thr
ENST00000378362.3:c.1042C>A	ENSP00000367613.3:p.Pro348Thr
NM_001496.3:c.1135C>A	NP_001487.2:p.Pro379Thr
NM_001496.4:c.1135C>A MANE Select	NP_001487.2:p.Pro379Thr