Canonical Allele Identifier: CA10617835
Gene: PRSS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 347403
ClinVar RCV Id: RCV000311419
dbSNP Id: rs753768799
gnomAD v2: 4-119273396-C-G
gnomAD v3: 4-118352241-C-G
gnomAD v4: 4-118352241-C-G
MyVariant Identifiers: chr4:g.119273396C>G (hg19) chr4:g.118352241C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.118352241C>G , CM000666.2:g.118352241C>G GRCh38
NC_000004.11:g.119273396C>G , CM000666.1:g.119273396C>G GRCh37
NC_000004.10:g.119492844C>G NCBI36
NG_023350.1:g.5527G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296498.3:c.480G>C MANE Select ENSP00000296498.3:p.Trp160Cys
NM_003619.3:c.480G>C NP_003610.2:p.Trp160Cys
XM_005263318.3:c.480G>C XP_005263375.1:p.Trp160Cys
XM_011532387.1:c.480G>C XP_011530689.1:p.Trp160Cys
XM_005263318.4:c.480G>C XP_005263375.1:p.Trp160Cys
XM_011532387.2:c.480G>C XP_011530689.1:p.Trp160Cys
NM_003619.4:c.480G>C MANE Select NP_003610.2:p.Trp160Cys
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