Canonical Allele Identifier: CA1082183699

Gene: PURA

Linked Data

• dbSNP Id: rs1763034038
• gnomAD v3: 5-140114168-C-T
• gnomAD v4: 5-140114168-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114168C>T , CM000667.2:g.140114168C>T	GRCh38
NC_000005.9:g.139493753C>T , CM000667.1:g.139493753C>T	GRCh37
NC_000005.8:g.139473937C>T	NCBI36
NG_041813.1:g.5046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.-14C>T MANE Select	ENSP00000332706.3:n.-14C>T
ENST00000505703.2:c.-14C>T	ENSP00000498560.1:n.-14C>T
ENST00000651386.1:c.-14C>T	ENSP00000499133.1:n.-14C>T
ENST00000331327.4:c.-14C>T	ENSP00000332706.3:n.-14C>T
ENST00000502351.1:n.410C>T
ENST00000505703.1:n.452C>T
NM_005859.4:c.-14C>T	NP_005850.1:n.-14C>T
NM_005859.5:c.-14C>T MANE Select	NP_005850.1:n.-14C>T