Canonical Allele Identifier: CA361491271

Gene: PURA

Linked Data

• COSMIC: COSM5567736
• MyVariant Identifiers: chr5:g.139494433T>G (hg19) ; chr5:g.140114848T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114848T>G , CM000667.2:g.140114848T>G	GRCh38
NC_000005.9:g.139494433T>G , CM000667.1:g.139494433T>G	GRCh37
NC_000005.8:g.139474617T>G	NCBI36
NG_041813.1:g.5726T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.667T>G MANE Select	ENSP00000332706.3:p.Ser223Ala
ENST00000651386.1:c.667T>G	ENSP00000499133.1:p.Ser223Ala
ENST00000331327.4:c.667T>G	ENSP00000332706.3:p.Ser223Ala
NM_005859.4:c.667T>G	NP_005850.1:p.Ser223Ala
NM_005859.5:c.667T>G MANE Select	NP_005850.1:p.Ser223Ala