Canonical Allele Identifier: CA2625149727

Gene: PRKCH

Linked Data

• gnomAD v4: 14-61452729-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61452729A>C , CM000676.2:g.61452729A>C	GRCh38
NC_000014.8:g.61919447A>C , CM000676.1:g.61919447A>C	GRCh37
NC_000014.7:g.60989200A>C	NCBI36
NG_011514.1:g.135933A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332981.11:c.833-497A>C MANE Select	ENSP00000329127.5:n.833-497A>C
ENST00000332981.10:c.833-497A>C	ENSP00000329127.5:n.833-497A>C
ENST00000332981.9:c.833-497A>C	ENSP00000329127.5:n.833-497A>C
ENST00000553726.5:c.26-497A>C	ENSP00000451793.1:n.26-497A>C
ENST00000555082.5:c.350-497A>C	ENSP00000450981.1:n.350-497A>C
ENST00000555185.5:c.-18-32773A>C	ENSP00000451871.1:n.-18-32773A>C
ENST00000556778.5:c.350-497A>C	ENSP00000452055.1:n.350-497A>C
ENST00000557585.5:c.350-497A>C	ENSP00000451930.1:n.350-497A>C
NM_006255.4:c.833-497A>C	NP_006246.2:n.833-497A>C
XM_011536954.1:c.596-497A>C	XP_011535256.1:n.596-497A>C
XM_011536955.1:c.593-497A>C	XP_011535257.1:n.593-497A>C
XM_011536956.1:c.833-497A>C	XP_011535258.1:n.833-497A>C
XM_011536957.1:c.833-497A>C	XP_011535259.1:n.833-497A>C
XM_011536954.3:c.596-497A>C	XP_011535256.1:n.596-497A>C
XM_017021458.1:c.350-497A>C	XP_016876947.1:n.350-497A>C
XM_017021459.1:c.833-497A>C	XP_016876948.1:n.833-497A>C
XM_024449661.1:c.350-497A>C	XP_024305429.1:n.350-497A>C
XM_024449662.1:c.350-497A>C	XP_024305430.1:n.350-497A>C
NM_006255.5:c.833-497A>C MANE Select	NP_006246.2:n.833-497A>C