Canonical Allele Identifier: CA7033862

Gene: PCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100515515G>A , CM000675.2:g.100515515G>A	GRCh38
NC_000013.10:g.101167769G>A , CM000675.1:g.101167769G>A	GRCh37
NC_000013.9:g.99965770G>A	NCBI36
NG_008768.1:g.431433G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000282.4:c.1988G>A MANE Select	NP_000273.2:p.Arg663His
ENST00000376285.6:c.1988G>A MANE Select	ENSP00000365462.1:p.Arg663His
NM_000282.3:c.1988G>A	NP_000273.2:p.Arg663His
NM_001127692.2:c.1910G>A	NP_001121164.1:p.Arg637His
NM_001127692.3:c.1910G>A	NP_001121164.1:p.Arg637His
NM_001178004.1:c.1900-12160G>A	NP_001171475.1:n.1900-12160G>A
NM_001178004.2:c.1900-12160G>A	NP_001171475.1:n.1900-12160G>A
NM_001352605.1:c.1934G>A	NP_001339534.1:p.Arg645His
NM_001352605.2:c.1934G>A	NP_001339534.1:p.Arg645His
NM_001352606.1:c.1844G>A	NP_001339535.1:p.Arg615His
NM_001352606.2:c.1844G>A	NP_001339535.1:p.Arg615His
NM_001352607.1:c.1822-12160G>A	NP_001339536.1:n.1822-12160G>A
NM_001352607.2:c.1822-12160G>A	NP_001339536.1:n.1822-12160G>A
NM_001352608.1:c.1766G>A	NP_001339537.1:p.Arg589His
NM_001352608.2:c.1766G>A	NP_001339537.1:p.Arg589His
NM_001352610.1:c.1043G>A	NP_001339539.1:p.Arg348His
NM_001352610.2:c.1043G>A	NP_001339539.1:p.Arg348His
NM_001352611.1:c.989G>A	NP_001339540.1:p.Arg330His
NM_001352611.2:c.989G>A	NP_001339540.1:p.Arg330His
NM_001352612.1:c.899G>A	NP_001339541.1:p.Arg300His
NM_001352612.2:c.899G>A	NP_001339541.1:p.Arg300His
NR_148027.1:n.2090-12160G>A
NR_148027.2:n.2012-12160G>A
NR_148028.1:n.2075G>A
NR_148028.2:n.1997G>A
NR_148029.1:n.1997G>A
NR_148029.2:n.1919G>A
NR_148030.1:n.2178G>A
NR_148030.2:n.2100G>A
NR_148031.1:n.1991G>A
NR_148031.2:n.1913G>A
ENST00000376279.7:c.1900-12160G>A	ENSP00000365456.3:n.1900-12160G>A
ENST00000376285.5:c.1988G>A	ENSP00000365462.1:p.Arg663His
ENST00000376286.8:c.1910G>A	ENSP00000365463.4:p.Arg637His
ENST00000428969.1:c.89G>A	ENSP00000399413.1:p.Arg30His
ENST00000458283.5:c.257-12160G>A
ENST00000636366.1:c.1186G>A
ENST00000636475.1:c.1503G>A
ENST00000637657.1:c.1648G>A
ENST00000647303.1:c.*1472G>A	ENSP00000495663.1:n.*1472G>A
XM_017020609.1:c.1889G>A	XP_016876098.1:p.Arg630His
XM_017020612.1:c.*21G>A	XP_016876101.1:n.*21G>A
XM_017020613.1:c.1979-12160G>A	XP_016876102.1:n.1979-12160G>A
XR_001749567.1:n.2168G>A
XR_001749568.1:n.2255G>A
XR_001749569.1:n.2167-12160G>A
XR_001749574.1:n.2024G>A
XR_001749576.1:n.1725G>A
XR_001749577.1:n.1622G>A
XR_931615.1:n.1898-12160G>A