Canonical Allele Identifier: CA446758099

Gene: PURA

Linked Data

• gnomAD v4: 5-140114199-C-T
• MyVariant Identifiers: chr5:g.139493784C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114199C>T , CM000667.2:g.140114199C>T	GRCh38
NC_000005.9:g.139493784C>T , CM000667.1:g.139493784C>T	GRCh37
NC_000005.8:g.139473968C>T	NCBI36
NG_041813.1:g.5077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.18C>T MANE Select	ENSP00000332706.3:p.Ser6=
ENST00000505703.2:c.18C>T	ENSP00000498560.1:p.Ser6=
ENST00000651386.1:c.18C>T	ENSP00000499133.1:p.Ser6=
ENST00000331327.4:c.18C>T	ENSP00000332706.3:p.Ser6=
ENST00000502351.1:n.441C>T
ENST00000505703.1:n.483C>T
NM_005859.4:c.18C>T	NP_005850.1:p.Ser6=
NM_005859.5:c.18C>T MANE Select	NP_005850.1:p.Ser6=