Canonical Allele Identifier: CA361489110

Gene: PURA

Linked Data

• gnomAD v4: 5-140114233-G-T
• MyVariant Identifiers: chr5:g.139493818G>T (hg19) ; chr5:g.140114233G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114233G>T , CM000667.2:g.140114233G>T	GRCh38
NC_000005.9:g.139493818G>T , CM000667.1:g.139493818G>T	GRCh37
NC_000005.8:g.139474002G>T	NCBI36
NG_041813.1:g.5111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.52G>T MANE Select	ENSP00000332706.3:p.Gly18Cys
ENST00000505703.2:c.52G>T	ENSP00000498560.1:p.Gly18Cys
ENST00000651386.1:c.52G>T	ENSP00000499133.1:p.Gly18Cys
ENST00000331327.4:c.52G>T	ENSP00000332706.3:p.Gly18Cys
ENST00000502351.1:n.475G>T
ENST00000505703.1:n.517G>T
NM_005859.4:c.52G>T	NP_005850.1:p.Gly18Cys
NM_005859.5:c.52G>T MANE Select	NP_005850.1:p.Gly18Cys