Canonical Allele Identifier: CA9830372

Gene: PROCR

Linked Data

• dbSNP Id: rs374766786
• ExAC: 20:33764570 G / A
• gnomAD v2: 20-33764570-G-A
• gnomAD v3: 20-35176767-G-A
• gnomAD v4: 20-35176767-G-A
• MyVariant Identifiers: chr20:g.33764570G>A (hg19) ; chr20:g.35176767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35176767G>A , CM000682.2:g.35176767G>A	GRCh38
NC_000020.10:g.33764570G>A , CM000682.1:g.33764570G>A	GRCh37
NC_000020.9:g.33228231G>A	NCBI36
NG_032899.1:g.9797G>A
NG_032899.2:g.9797G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216968.5:c.671G>A MANE Select	ENSP00000216968.3:p.Gly224Asp
ENST00000216968.4:c.671G>A	ENSP00000216968.3:p.Gly224Asp
ENST00000634509.1:c.94+321G>A	ENSP00000489456.1:n.94+321G>A
ENST00000635377.1:c.502-320G>A
NM_006404.4:c.671G>A	NP_006395.2:p.Gly224Asp
XM_011528496.1:c.601+321G>A	XP_011526798.1:n.601+321G>A
NM_001355008.1:c.-101-10896C>T	NP_001341937.1:n.-101-10896C>T
NM_006404.5:c.671G>A MANE Select	NP_006395.2:p.Gly224Asp
NM_001355008.2:c.-101-10896C>T	NP_001341937.1:n.-101-10896C>T