Canonical Allele Identifier: CA446830715
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1362659842
gnomAD v2: 5-139494471-G-T
gnomAD v3: 5-140114886-G-T
gnomAD v4: 5-140114886-G-T
MyVariant Identifiers: chr5:g.139494471G>T (hg19) chr5:g.140114886G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114886G>T , CM000667.2:g.140114886G>T GRCh38
NC_000005.9:g.139494471G>T , CM000667.1:g.139494471G>T GRCh37
NC_000005.8:g.139474655G>T NCBI36
NG_041813.1:g.5764G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.705G>T MANE Select ENSP00000332706.3:p.Val235=
ENST00000651386.1:c.705G>T ENSP00000499133.1:p.Val235=
ENST00000331327.4:c.705G>T ENSP00000332706.3:p.Val235=
NM_005859.4:c.705G>T NP_005850.1:p.Val235=
NM_005859.5:c.705G>T MANE Select NP_005850.1:p.Val235=
Search 100 bp 5'
Search 100 bp 3'