Canonical Allele Identifier: CA1869916771
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104790930G= , CM000671.2:g.104790930G= GRCh38
NC_000009.11:g.107553211G= , CM000671.1:g.107553211G= GRCh37
NC_000009.10:g.106593032G= NCBI36
NG_007981.1:g.142226C=

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.5919C= MANE Select ENSP00000363868.3:p.Asn1973=
ENST00000678995.1:c.5925C= ENSP00000504612.1:p.Asn1975=
ENST00000374736.7:c.5919C= ENSP00000363868.3:p.Asn1973=
NM_005502.3:c.5919C= NP_005493.2:p.Asn1973=
XM_005251773.1:c.5925C= XP_005251830.1:p.Asn1975=
XM_005251776.1:c.5745C= XP_005251833.1:p.Asn1915=
XM_011518339.1:c.6000C= XP_011516641.1:p.Asn2000=
XM_011518340.1:c.6000C= XP_011516642.1:p.Asn2000=
XM_011518341.1:c.5994C= XP_011516643.1:p.Asn1998=
XM_011518342.1:c.5562C= XP_011516644.1:p.Asn1854=
XM_011518343.1:c.6000C= XP_011516645.1:p.Asn2000=
XM_005251773.3:c.5925C= XP_005251830.1:p.Asn1975=
XM_005251776.3:c.5745C= XP_005251833.1:p.Asn1915=
XM_011518339.3:c.6000C= XP_011516641.1:p.Asn2000=
XM_011518340.3:c.6000C= XP_011516642.1:p.Asn2000=
XM_011518341.3:c.5994C= XP_011516643.1:p.Asn1998=
XM_011518342.3:c.5562C= XP_011516644.1:p.Asn1854=
XM_017014378.2:c.6000C= XP_016869867.1:p.Asn2000=
XM_017014379.2:c.6000C= XP_016869868.1:p.Asn2000=
XM_017014380.2:c.6000C= XP_016869869.1:p.Asn2000=
XM_017014381.2:c.6000C= XP_016869870.1:p.Asn2000=
XM_017014382.2:c.5862C= XP_016869871.1:p.Asn1954=
XR_001746223.1:n.6313C=
NM_005502.4:c.5919C= MANE Select NP_005493.2:p.Asn1973=