Canonical Allele Identifier: CA408710745

Gene: PROCR

Linked Data

• dbSNP Id: rs2086024040
• gnomAD v4: 20-35176770-T-C
• MyVariant Identifiers: chr20:g.33764573T>C (hg19) ; chr20:g.35176770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35176770T>C , CM000682.2:g.35176770T>C	GRCh38
NC_000020.10:g.33764573T>C , CM000682.1:g.33764573T>C	GRCh37
NC_000020.9:g.33228234T>C	NCBI36
NG_032899.1:g.9800T>C
NG_032899.2:g.9800T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216968.5:c.674T>C MANE Select	ENSP00000216968.3:p.Val225Ala
ENST00000216968.4:c.674T>C	ENSP00000216968.3:p.Val225Ala
ENST00000634509.1:c.94+324T>C	ENSP00000489456.1:n.94+324T>C
ENST00000635377.1:c.502-317T>C
NM_006404.4:c.674T>C	NP_006395.2:p.Val225Ala
XM_011528496.1:c.601+324T>C	XP_011526798.1:n.601+324T>C
NM_001355008.1:c.-101-10899A>G	NP_001341937.1:n.-101-10899A>G
NM_006404.5:c.674T>C MANE Select	NP_006395.2:p.Val225Ala
NM_001355008.2:c.-101-10899A>G	NP_001341937.1:n.-101-10899A>G