Canonical Allele Identifier: CA388641035

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101182364C>A (hg19) ; chr13:g.100530110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100530110C>A , CM000675.2:g.100530110C>A	GRCh38
NC_000013.10:g.101182364C>A , CM000675.1:g.101182364C>A	GRCh37
NC_000013.9:g.99980365C>A	NCBI36
NG_008768.1:g.446028C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376285.6:c.2131C>A MANE Select	ENSP00000365462.1:p.His711Asn
ENST00000636366.1:c.1329C>A
ENST00000636475.1:c.1646C>A
ENST00000637657.1:c.1791C>A
ENST00000647303.1:c.*1615C>A	ENSP00000495663.1:n.*1615C>A
ENST00000376279.7:c.1990C>A	ENSP00000365456.3:p.His664Asn
ENST00000376285.5:c.2131C>A	ENSP00000365462.1:p.His711Asn
ENST00000376286.8:c.2053C>A	ENSP00000365463.4:p.His685Asn
ENST00000428969.1:c.280C>A	ENSP00000399413.1:p.His94Asn
ENST00000458283.5:c.347C>A
NM_000282.3:c.2131C>A	NP_000273.2:p.His711Asn
NM_001127692.2:c.2053C>A	NP_001121164.1:p.His685Asn
NM_001178004.1:c.1990C>A	NP_001171475.1:p.His664Asn
XR_931615.1:n.1988C>A
NM_001352605.1:c.2077C>A	NP_001339534.1:p.His693Asn
NM_001352606.1:c.1987C>A	NP_001339535.1:p.His663Asn
NM_001352607.1:c.1912C>A	NP_001339536.1:p.His638Asn
NM_001352608.1:c.1909C>A	NP_001339537.1:p.His637Asn
NM_001352610.1:c.1186C>A	NP_001339539.1:p.His396Asn
NM_001352611.1:c.1132C>A	NP_001339540.1:p.His378Asn
NM_001352612.1:c.1042C>A	NP_001339541.1:p.His348Asn
NR_148027.1:n.2180C>A
NR_148028.1:n.2218C>A
NR_148029.1:n.2140C>A
NR_148030.1:n.2321C>A
NR_148031.1:n.2134C>A
XM_017020609.1:c.2032C>A	XP_016876098.1:p.His678Asn
XM_017020613.1:c.*59C>A	XP_016876102.1:n.*59C>A
XR_001749567.1:n.2311C>A
XR_001749568.1:n.2398C>A
XR_001749569.1:n.2257C>A
XR_001749576.1:n.1868C>A
XR_001749577.1:n.1765C>A
NM_000282.4:c.2131C>A MANE Select	NP_000273.2:p.His711Asn
NM_001352605.2:c.2077C>A	NP_001339534.1:p.His693Asn
NM_001352606.2:c.1987C>A	NP_001339535.1:p.His663Asn
NM_001352607.2:c.1912C>A	NP_001339536.1:p.His638Asn
NM_001352608.2:c.1909C>A	NP_001339537.1:p.His637Asn
NM_001352610.2:c.1186C>A	NP_001339539.1:p.His396Asn
NM_001352611.2:c.1132C>A	NP_001339540.1:p.His378Asn
NM_001352612.2:c.1042C>A	NP_001339541.1:p.His348Asn
NR_148027.2:n.2102C>A
NR_148028.2:n.2140C>A
NR_148029.2:n.2062C>A
NR_148030.2:n.2243C>A
NR_148031.2:n.2056C>A
NM_001127692.3:c.2053C>A	NP_001121164.1:p.His685Asn
NM_001178004.2:c.1990C>A	NP_001171475.1:p.His664Asn