Canonical Allele Identifier: CA350992141

Gene: PRSS56

Linked Data

• MyVariant Identifiers: chr2:g.233388520G>A (hg19) ; chr2:g.232523810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232523810G>A , CM000664.2:g.232523810G>A	GRCh38
NC_000002.11:g.233388520G>A , CM000664.1:g.233388520G>A	GRCh37
NC_000002.10:g.233096764G>A	NCBI36
NG_008028.1:g.2599G>A
NG_031969.1:g.8348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617714.2:c.1051G>A MANE Select	ENSP00000479745.1:p.Ala351Thr
ENST00000449534.6:c.1054G>A	ENSP00000473410.1:p.Ala352Thr
ENST00000617714.1:c.1051G>A	ENSP00000479745.1:p.Ala351Thr
NM_001195129.1:c.1051G>A	NP_001182058.1:p.Ala351Thr
NM_001195129.2:c.1051G>A MANE Select	NP_001182058.1:p.Ala351Thr
NM_001369848.1:c.1054G>A	NP_001356777.1:p.Ala352Thr