Canonical Allele Identifier: CA446758480

Gene: PURA

Linked Data

• MyVariant Identifiers: chr5:g.139493856C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114271C>G , CM000667.2:g.140114271C>G	GRCh38
NC_000005.9:g.139493856C>G , CM000667.1:g.139493856C>G	GRCh37
NC_000005.8:g.139474040C>G	NCBI36
NG_041813.1:g.5149C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.90C>G MANE Select	ENSP00000332706.3:p.Ser30=
ENST00000505703.2:c.90C>G	ENSP00000498560.1:p.Ser30=
ENST00000651386.1:c.90C>G	ENSP00000499133.1:p.Ser30=
ENST00000331327.4:c.90C>G	ENSP00000332706.3:p.Ser30=
ENST00000505703.1:n.555C>G
NM_005859.4:c.90C>G	NP_005850.1:p.Ser30=
NM_005859.5:c.90C>G MANE Select	NP_005850.1:p.Ser30=