Canonical Allele Identifier: CA2452113
Community Standard Title: NM_006254.4(PRKCD):c.1213G>A (p.Ala405Thr)
Gene: PRKCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53186293G>A , CM000665.2:g.53186293G>A GRCh38
NC_000003.11:g.53220309G>A , CM000665.1:g.53220309G>A GRCh37
NC_000003.10:g.53195349G>A NCBI36
NG_033864.1:g.30087G>A
NG_033864.2:g.35285G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006254.4:c.1213G>A MANE Select NP_006245.2:p.Ala405Thr
ENST00000330452.8:c.1213G>A MANE Select ENSP00000331602.3:p.Ala405Thr
NM_001316327.1:c.1213G>A NP_001303256.1:p.Ala405Thr
NM_001316327.2:c.1213G>A NP_001303256.1:p.Ala405Thr
NM_001354676.1:c.1270G>A NP_001341605.1:p.Ala424Thr
NM_001354676.2:c.1270G>A NP_001341605.1:p.Ala424Thr
NM_001354678.1:c.1261G>A NP_001341607.1:p.Ala421Thr
NM_001354678.2:c.1261G>A NP_001341607.1:p.Ala421Thr
NM_001354679.1:c.1213G>A NP_001341608.1:p.Ala405Thr
NM_001354679.2:c.1213G>A NP_001341608.1:p.Ala405Thr
NM_001354680.1:c.1213G>A NP_001341609.1:p.Ala405Thr
NM_001354680.2:c.1213G>A NP_001341609.1:p.Ala405Thr
NM_006254.3:c.1213G>A NP_006245.2:p.Ala405Thr
NM_212539.1:c.1213G>A NP_997704.1:p.Ala405Thr
NM_212539.2:c.1213G>A NP_997704.1:p.Ala405Thr
ENST00000330452.7:c.1213G>A ENSP00000331602.3:p.Ala405Thr
ENST00000394729.6:c.1213G>A ENSP00000378217.2:p.Ala405Thr
ENST00000650739.1:c.1213G>A ENSP00000498623.1:p.Ala405Thr
ENST00000651505.1:c.954G>A
ENST00000652449.1:c.1213G>A ENSP00000498400.1:p.Ala405Thr
ENST00000654719.1:c.1213G>A ENSP00000499558.1:p.Ala405Thr
ENST00000697588.1:c.1213G>A ENSP00000513355.1:p.Ala405Thr
ENST00000697589.1:n.1217G>A
XM_006713257.2:c.1261G>A XP_006713320.1:p.Ala421Thr
XM_006713259.2:c.1213G>A XP_006713322.1:p.Ala405Thr
XR_002959550.1:n.1184G>A
XR_940474.1:n.1131G>A