Canonical Allele Identifier: CA361491195

Gene: PURA

Linked Data

• gnomAD v4: 5-140114815-G-A
• MyVariant Identifiers: chr5:g.139494400G>A (hg19) ; chr5:g.140114815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114815G>A , CM000667.2:g.140114815G>A	GRCh38
NC_000005.9:g.139494400G>A , CM000667.1:g.139494400G>A	GRCh37
NC_000005.8:g.139474584G>A	NCBI36
NG_041813.1:g.5693G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.634G>A MANE Select	ENSP00000332706.3:p.Glu212Lys
ENST00000651386.1:c.634G>A	ENSP00000499133.1:p.Glu212Lys
ENST00000331327.4:c.634G>A	ENSP00000332706.3:p.Glu212Lys
NM_005859.4:c.634G>A	NP_005850.1:p.Glu212Lys
NM_005859.5:c.634G>A MANE Select	NP_005850.1:p.Glu212Lys