Canonical Allele Identifier: CA361490383

Gene: PURA

Linked Data

• gnomAD v4: 5-140114445-C-G
• MyVariant Identifiers: chr5:g.139494030C>G (hg19) ; chr5:g.140114445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114445C>G , CM000667.2:g.140114445C>G	GRCh38
NC_000005.9:g.139494030C>G , CM000667.1:g.139494030C>G	GRCh37
NC_000005.8:g.139474214C>G	NCBI36
NG_041813.1:g.5323C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000331327.5:c.264C>G MANE Select	ENSP00000332706.3:p.Ile88Met
ENST00000505703.2:c.264C>G	ENSP00000498560.1:p.Ile88Met
ENST00000651386.1:c.264C>G	ENSP00000499133.1:p.Ile88Met
ENST00000331327.4:c.264C>G	ENSP00000332706.3:p.Ile88Met
NM_005859.4:c.264C>G	NP_005850.1:p.Ile88Met
NM_005859.5:c.264C>G MANE Select	NP_005850.1:p.Ile88Met