Canonical Allele Identifier: CA361491090

Gene: PURA

Linked Data

• MyVariant Identifiers: chr5:g.139494353T>C (hg19) ; chr5:g.140114768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114768T>C , CM000667.2:g.140114768T>C	GRCh38
NC_000005.9:g.139494353T>C , CM000667.1:g.139494353T>C	GRCh37
NC_000005.8:g.139474537T>C	NCBI36
NG_041813.1:g.5646T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.587T>C MANE Select	ENSP00000332706.3:p.Ile196Thr
ENST00000651386.1:c.587T>C	ENSP00000499133.1:p.Ile196Thr
ENST00000331327.4:c.587T>C	ENSP00000332706.3:p.Ile196Thr
NM_005859.4:c.587T>C	NP_005850.1:p.Ile196Thr
NM_005859.5:c.587T>C MANE Select	NP_005850.1:p.Ile196Thr