Canonical Allele Identifier: CA804698468
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1173254149
gnomAD v3: 5-140114030-C-T
gnomAD v4: 5-140114030-C-T
MyVariant Identifiers: chr5:g.139493615C>T (hg19) chr5:g.140114030C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114030C>T , CM000667.2:g.140114030C>T GRCh38
NC_000005.9:g.139493615C>T , CM000667.1:g.139493615C>T GRCh37
NC_000005.8:g.139473799C>T NCBI36
NG_041813.1:g.4908C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-11C>T ENSP00000498560.1:n.-141-11C>T
ENST00000651386.1:c.-141-11C>T ENSP00000499133.1:n.-141-11C>T
ENST00000502351.1:n.283-11C>T
ENST00000505703.1:n.325-11C>T
Search 100 bp 5'
Search 100 bp 3'