Canonical Allele Identifier: CA389145518

Gene: PNP

Linked Data

• dbSNP Id: rs774704206
• gnomAD v2: 14-20943250-A-C
• gnomAD v3: 14-20475091-A-C
• gnomAD v4: 14-20475091-A-C
• MyVariant Identifiers: chr14:g.20943250A>C (hg19) ; chr14:g.20475091A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20475091A>C , CM000676.2:g.20475091A>C	GRCh38
NC_000014.8:g.20943250A>C , CM000676.1:g.20943250A>C	GRCh37
NC_000014.7:g.20013090A>C	NCBI36
NG_009631.1:g.10709A>C , LRG_91:g.10709A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553591.2:c.608A>C	ENSP00000452421.2:p.Asp203Ala
ENST00000556293.6:n.2914A>C
ENST00000556754.2:n.3857A>C
ENST00000557229.6:n.920A>C
ENST00000697613.1:c.491A>C	ENSP00000513359.1:p.Asp164Ala
ENST00000697614.1:c.254A>C	ENSP00000513360.1:p.Asp85Ala
ENST00000697615.1:n.1319A>C
ENST00000361505.10:c.491A>C MANE Select	ENSP00000354532.6:p.Asp164Ala
ENST00000361505.9:c.491A>C	ENSP00000354532.5:p.Asp164Ala
ENST00000553591.1:c.608A>C	ENSP00000452421.1:p.Asp203Ala
ENST00000554056.5:n.799A>C
ENST00000556754.1:n.1708A>C
ENST00000557229.5:n.920A>C
NM_000270.3:c.491A>C , LRG_91t1:c.491A>C	NP_000261.2:p.Asp164Ala
NM_000270.4:c.491A>C MANE Select	NP_000261.2:p.Asp164Ala