Canonical Allele Identifier: CA9830373

Gene: PROCR

Linked Data

• dbSNP Id: rs781289974
• ExAC: 20:33764576 C / T
• gnomAD v2: 20-33764576-C-T
• gnomAD v3: 20-35176773-C-T
• gnomAD v4: 20-35176773-C-T
• MyVariant Identifiers: chr20:g.33764576C>T (hg19) ; chr20:g.35176773C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35176773C>T , CM000682.2:g.35176773C>T	GRCh38
NC_000020.10:g.33764576C>T , CM000682.1:g.33764576C>T	GRCh37
NC_000020.9:g.33228237C>T	NCBI36
NG_032899.1:g.9803C>T
NG_032899.2:g.9803C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216968.5:c.677C>T MANE Select	ENSP00000216968.3:p.Ala226Val
ENST00000216968.4:c.677C>T	ENSP00000216968.3:p.Ala226Val
ENST00000634509.1:c.94+327C>T	ENSP00000489456.1:n.94+327C>T
ENST00000635377.1:c.502-314C>T
NM_006404.4:c.677C>T	NP_006395.2:p.Ala226Val
XM_011528496.1:c.601+327C>T	XP_011526798.1:n.601+327C>T
NM_001355008.1:c.-101-10902G>A	NP_001341937.1:n.-101-10902G>A
NM_006404.5:c.677C>T MANE Select	NP_006395.2:p.Ala226Val
NM_001355008.2:c.-101-10902G>A	NP_001341937.1:n.-101-10902G>A