Canonical Allele Identifier: CA361491403
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114906-T-C
MyVariant Identifiers: chr5:g.139494491T>C (hg19) chr5:g.140114906T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114906T>C , CM000667.2:g.140114906T>C GRCh38
NC_000005.9:g.139494491T>C , CM000667.1:g.139494491T>C GRCh37
NC_000005.8:g.139474675T>C NCBI36
NG_041813.1:g.5784T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.725T>C MANE Select ENSP00000332706.3:p.Val242Ala
ENST00000651386.1:c.725T>C ENSP00000499133.1:p.Val242Ala
ENST00000331327.4:c.725T>C ENSP00000332706.3:p.Val242Ala
NM_005859.4:c.725T>C NP_005850.1:p.Val242Ala
NM_005859.5:c.725T>C MANE Select NP_005850.1:p.Val242Ala
Search 100 bp 5'
Search 100 bp 3'