Canonical Allele Identifier: CA154793

Gene: PRSS12

Linked Data

• ClinVar Variation Id: 130047
• ClinVar RCV Id: RCV000118074 ; RCV000313428
• dbSNP Id: rs17594503
• ExAC: 4:119203221 C / T
• gnomAD v2: 4-119203221-C-T
• gnomAD v3: 4-118282066-C-T
• gnomAD v4: 4-118282066-C-T
• MyVariant Identifiers: chr4:g.119203221C>T (hg19) ; chr4:g.118282066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118282066C>T , CM000666.2:g.118282066C>T	GRCh38
NC_000004.11:g.119203221C>T , CM000666.1:g.119203221C>T	GRCh37
NC_000004.10:g.119422669C>T	NCBI36
NG_023350.1:g.75702G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296498.3:c.2498G>A MANE Select	ENSP00000296498.3:p.Arg833Gln
NM_003619.3:c.2498G>A	NP_003610.2:p.Arg833Gln
NM_003619.4:c.2498G>A MANE Select	NP_003610.2:p.Arg833Gln