Canonical Allele Identifier: CA361491274
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs753835271
gnomAD v2: 5-139494434-C-T
gnomAD v4: 5-140114849-C-T
MyVariant Identifiers: chr5:g.139494434C>T (hg19) chr5:g.140114849C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114849C>T , CM000667.2:g.140114849C>T GRCh38
NC_000005.9:g.139494434C>T , CM000667.1:g.139494434C>T GRCh37
NC_000005.8:g.139474618C>T NCBI36
NG_041813.1:g.5727C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.668C>T MANE Select ENSP00000332706.3:p.Ser223Phe
ENST00000651386.1:c.668C>T ENSP00000499133.1:p.Ser223Phe
ENST00000331327.4:c.668C>T ENSP00000332706.3:p.Ser223Phe
NM_005859.4:c.668C>T NP_005850.1:p.Ser223Phe
NM_005859.5:c.668C>T MANE Select NP_005850.1:p.Ser223Phe
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