Canonical Allele Identifier: CA2675565355
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114162-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114162C>T , CM000667.2:g.140114162C>T GRCh38
NC_000005.9:g.139493747C>T , CM000667.1:g.139493747C>T GRCh37
NC_000005.8:g.139473931C>T NCBI36
NG_041813.1:g.5040C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.-20C>T MANE Select ENSP00000332706.3:n.-20C>T
ENST00000505703.2:c.-20C>T ENSP00000498560.1:n.-20C>T
ENST00000651386.1:c.-20C>T ENSP00000499133.1:n.-20C>T
ENST00000331327.4:c.-20C>T ENSP00000332706.3:n.-20C>T
ENST00000502351.1:n.404C>T
ENST00000505703.1:n.446C>T
NM_005859.4:c.-20C>T NP_005850.1:n.-20C>T
NM_005859.5:c.-20C>T MANE Select NP_005850.1:n.-20C>T
Search 100 bp 5'
Search 100 bp 3'