Canonical Allele Identifier: CA484535019

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182384A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530130A>C , CM000675.2:g.100530130A>C	GRCh38
NC_000013.10:g.101182384A>C , CM000675.1:g.101182384A>C	GRCh37
NC_000013.9:g.99980385A>C	NCBI36
NG_008768.1:g.446048A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2151A>C MANE Select	ENSP00000365462.1:p.Thr717=
ENST00000636366.1:c.1349A>C
ENST00000636475.1:c.1666A>C
ENST00000637657.1:c.1811A>C
ENST00000647303.1:c.*1635A>C	ENSP00000495663.1:n.*1635A>C
ENST00000376279.7:c.2010A>C	ENSP00000365456.3:p.Thr670=
ENST00000376285.5:c.2151A>C	ENSP00000365462.1:p.Thr717=
ENST00000376286.8:c.2073A>C	ENSP00000365463.4:p.Thr691=
ENST00000428969.1:c.300A>C	ENSP00000399413.1:p.Thr100=
ENST00000458283.5:c.367A>C
NM_000282.3:c.2151A>C	NP_000273.2:p.Thr717=
NM_001127692.2:c.2073A>C	NP_001121164.1:p.Thr691=
NM_001178004.1:c.2010A>C	NP_001171475.1:p.Thr670=
XR_931615.1:n.2008A>C
NM_001352605.1:c.2097A>C	NP_001339534.1:p.Thr699=
NM_001352606.1:c.2007A>C	NP_001339535.1:p.Thr669=
NM_001352607.1:c.1932A>C	NP_001339536.1:p.Thr644=
NM_001352608.1:c.1929A>C	NP_001339537.1:p.Thr643=
NM_001352610.1:c.1206A>C	NP_001339539.1:p.Thr402=
NM_001352611.1:c.1152A>C	NP_001339540.1:p.Thr384=
NM_001352612.1:c.1062A>C	NP_001339541.1:p.Thr354=
NR_148027.1:n.2200A>C
NR_148028.1:n.2238A>C
NR_148029.1:n.2160A>C
NR_148030.1:n.2341A>C
NR_148031.1:n.2154A>C
XM_017020609.1:c.2052A>C	XP_016876098.1:p.Thr684=
XM_017020613.1:c.*79A>C	XP_016876102.1:n.*79A>C
XR_001749567.1:n.2331A>C
XR_001749568.1:n.2418A>C
XR_001749569.1:n.2277A>C
XR_001749576.1:n.1888A>C
XR_001749577.1:n.1785A>C
NM_000282.4:c.2151A>C MANE Select	NP_000273.2:p.Thr717=
NM_001352605.2:c.2097A>C	NP_001339534.1:p.Thr699=
NM_001352606.2:c.2007A>C	NP_001339535.1:p.Thr669=
NM_001352607.2:c.1932A>C	NP_001339536.1:p.Thr644=
NM_001352608.2:c.1929A>C	NP_001339537.1:p.Thr643=
NM_001352610.2:c.1206A>C	NP_001339539.1:p.Thr402=
NM_001352611.2:c.1152A>C	NP_001339540.1:p.Thr384=
NM_001352612.2:c.1062A>C	NP_001339541.1:p.Thr354=
NR_148027.2:n.2122A>C
NR_148028.2:n.2160A>C
NR_148029.2:n.2082A>C
NR_148030.2:n.2263A>C
NR_148031.2:n.2076A>C
NM_001127692.3:c.2073A>C	NP_001121164.1:p.Thr691=
NM_001178004.2:c.2010A>C	NP_001171475.1:p.Thr670=