Canonical Allele Identifier: CA3056037

Gene: PRSS12

Linked Data

• ClinVar Variation Id: 445857
• ClinVar RCV Id: RCV000514704 ; RCV001146301 ; RCV001821443
• dbSNP Id: rs143520192
• ExAC: 4:119273848 G / C
• gnomAD v2: 4-119273848-G-C
• gnomAD v3: 4-118352693-G-C
• gnomAD v4: 4-118352693-G-C
• MyVariant Identifiers: chr4:g.119273848G>C (hg19) ; chr4:g.118352693G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.118352693G>C , CM000666.2:g.118352693G>C	GRCh38
NC_000004.11:g.119273848G>C , CM000666.1:g.119273848G>C	GRCh37
NC_000004.10:g.119493296G>C	NCBI36
NG_023350.1:g.5075C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296498.3:c.28C>G MANE Select	ENSP00000296498.3:p.Leu10Val
NM_003619.3:c.28C>G	NP_003610.2:p.Leu10Val
XM_005263318.3:c.28C>G	XP_005263375.1:p.Leu10Val
XM_011532387.1:c.28C>G	XP_011530689.1:p.Leu10Val
XM_005263318.4:c.28C>G	XP_005263375.1:p.Leu10Val
XM_011532387.2:c.28C>G	XP_011530689.1:p.Leu10Val
NM_003619.4:c.28C>G MANE Select	NP_003610.2:p.Leu10Val