Canonical Allele Identifier: CA8096428

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66847187C>T , CM000678.2:g.66847187C>T GRCh38
NC_000016.9:g.66881090C>T , CM000678.1:g.66881090C>T GRCh37
NC_000016.8:g.65438591C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000338437.7:c.198C>T (CA7) MANE Select ENSP00000345659.2:p.His66=
ENST00000338437.6:c.198C>T (CA7) ENSP00000345659.2:p.His66=
ENST00000394069.3:c.30C>T (CA7) ENSP00000377632.3:p.His10=
ENST00000548332.6:c.30C>T (CA7) ENSP00000447178.2:p.His10=
ENST00000561579.6:c.-214-20407G>A (NAE1) ENSP00000464119.1:n.-214-20407G>A
NM_001014435.1:c.30C>T (CA7) NP_001014435.1:p.His10=
NM_005182.2:c.198C>T (CA7) NP_005173.1:p.His66=
XM_005256136.2:c.30C>T (CA7) XP_005256193.1:p.His10=
XM_011523311.1:c.198C>T (CA7) XP_011521613.1:p.His66=
XM_011523312.1:c.30C>T (CA7) XP_011521614.1:p.His10=
NM_001014435.2:c.30C>T (CA7) NP_001014435.1:p.His10=
NM_001365337.1:c.30C>T (CA7) NP_001352266.1:p.His10=
NM_005182.3:c.198C>T (CA7) MANE Select NP_005173.1:p.His66=
NM_001365337.2:c.30C>T (CA7) NP_001352266.1:p.His10=