Canonical Allele Identifier: CA303953086

Gene: PRSS57

Linked Data

• dbSNP Id: rs567743989
• gnomAD v2: 19-694615-C-A
• gnomAD v3: 19-694615-C-A
• gnomAD v4: 19-694615-C-A
• MyVariant Identifiers: chr19:g.694615C>A (hg19) ; chr19:g.694615C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.694615C>A , CM000681.2:g.694615C>A	GRCh38
NC_000019.9:g.694615C>A , CM000681.1:g.694615C>A	GRCh37
NC_000019.8:g.645615C>A	NCBI36
NG_051189.1:g.5917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329267.9:c.233+199G>T MANE Select	ENSP00000327386.6:n.233+199G>T
ENST00000329267.8:c.233+199G>T	ENSP00000327386.6:n.233+199G>T
ENST00000613411.4:c.236+199G>T	ENSP00000482358.1:n.236+199G>T
NM_001308209.1:c.233+199G>T	NP_001295138.1:n.233+199G>T
NM_214710.3:c.236+199G>T	NP_999875.1:n.236+199G>T
NM_214710.4:c.236+199G>T	NP_999875.1:n.236+199G>T
NM_001308209.2:c.233+199G>T MANE Select	NP_001295138.2:n.233+199G>T
NM_214710.5:c.236+199G>T	NP_999875.2:n.236+199G>T