Canonical Allele Identifier: CA128789379

Gene: PURA

Linked Data

• dbSNP Id: rs997608532
• gnomAD v2: 5-139493709-G-T
• gnomAD v3: 5-140114124-G-T
• gnomAD v4: 5-140114124-G-T
• MyVariant Identifiers: chr5:g.139493709G>T (hg19) ; chr5:g.140114124G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114124G>T , CM000667.2:g.140114124G>T	GRCh38
NC_000005.9:g.139493709G>T , CM000667.1:g.139493709G>T	GRCh37
NC_000005.8:g.139473893G>T	NCBI36
NG_041813.1:g.5002G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-58G>T MANE Select	ENSP00000332706.3:n.-58G>T
ENST00000505703.2:c.-58G>T	ENSP00000498560.1:n.-58G>T
ENST00000651386.1:c.-58G>T	ENSP00000499133.1:n.-58G>T
ENST00000331327.4:c.-58G>T	ENSP00000332706.3:n.-58G>T
ENST00000502351.1:n.366G>T
ENST00000505703.1:n.408G>T
NM_005859.4:c.-58G>T	NP_005850.1:n.-58G>T
NM_005859.5:c.-58G>T MANE Select	NP_005850.1:n.-58G>T