Canonical Allele Identifier: CA128789382
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs983441704
gnomAD v2: 5-139493721-G-C
gnomAD v3: 5-140114136-G-C
gnomAD v4: 5-140114136-G-C
MyVariant Identifiers: chr5:g.139493721G>C (hg19) chr5:g.140114136G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114136G>C , CM000667.2:g.140114136G>C GRCh38
NC_000005.9:g.139493721G>C , CM000667.1:g.139493721G>C GRCh37
NC_000005.8:g.139473905G>C NCBI36
NG_041813.1:g.5014G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.-46G>C MANE Select ENSP00000332706.3:n.-46G>C
ENST00000505703.2:c.-46G>C ENSP00000498560.1:n.-46G>C
ENST00000651386.1:c.-46G>C ENSP00000499133.1:n.-46G>C
ENST00000331327.4:c.-46G>C ENSP00000332706.3:n.-46G>C
ENST00000502351.1:n.378G>C
ENST00000505703.1:n.420G>C
NM_005859.4:c.-46G>C NP_005850.1:n.-46G>C
NM_005859.5:c.-46G>C MANE Select NP_005850.1:n.-46G>C
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