Canonical Allele Identifier: CA361491222

Gene: PURA

Linked Data

• gnomAD v4: 5-140114825-C-A
• MyVariant Identifiers: chr5:g.139494410C>A (hg19) ; chr5:g.140114825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114825C>A , CM000667.2:g.140114825C>A	GRCh38
NC_000005.9:g.139494410C>A , CM000667.1:g.139494410C>A	GRCh37
NC_000005.8:g.139474594C>A	NCBI36
NG_041813.1:g.5703C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.644C>A MANE Select	ENSP00000332706.3:p.Pro215Gln
ENST00000651386.1:c.644C>A	ENSP00000499133.1:p.Pro215Gln
ENST00000331327.4:c.644C>A	ENSP00000332706.3:p.Pro215Gln
NM_005859.4:c.644C>A	NP_005850.1:p.Pro215Gln
NM_005859.5:c.644C>A MANE Select	NP_005850.1:p.Pro215Gln