Canonical Allele Identifier: CA1869910355
Community Standard Title: NM_005502.4(ABCA1):c.*693C=
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104783622G= , CM000671.2:g.104783622G= GRCh38
NC_000009.11:g.107545903G= , CM000671.1:g.107545903G= GRCh37
NC_000009.10:g.106585724G= NCBI36
NG_007981.1:g.149534C=

Transcript Alleles

HGVS Amino-acid Change
NM_005502.4:c.*693C= MANE Select NP_005493.2:n.*693C=
ENST00000374736.8:c.*693C= MANE Select ENSP00000363868.3:n.*693C=
NM_005502.3:c.*693C= NP_005493.2:n.*693C=
ENST00000374736.7:c.*693C= ENSP00000363868.3:n.*693C=
ENST00000678995.1:c.*693C= ENSP00000504612.1:n.*693C=
XM_005251773.1:c.*693C= XP_005251830.1:n.*693C=
XM_005251773.3:c.*693C= XP_005251830.1:n.*693C=
XM_005251776.1:c.*693C= XP_005251833.1:n.*693C=
XM_005251776.3:c.*693C= XP_005251833.1:n.*693C=
XM_011518339.1:c.*693C= XP_011516641.1:n.*693C=
XM_011518339.3:c.*693C= XP_011516641.1:n.*693C=
XM_011518340.1:c.*693C= XP_011516642.1:n.*693C=
XM_011518340.3:c.*693C= XP_011516642.1:n.*693C=
XM_011518341.1:c.*693C= XP_011516643.1:n.*693C=
XM_011518341.3:c.*693C= XP_011516643.1:n.*693C=
XM_011518342.1:c.*693C= XP_011516644.1:n.*693C=
XM_011518342.3:c.*693C= XP_011516644.1:n.*693C=
XM_017014378.2:c.*693C= XP_016869867.1:n.*693C=
XM_017014379.2:c.*693C= XP_016869868.1:n.*693C=
XM_017014380.2:c.*693C= XP_016869869.1:n.*693C=
XM_017014381.2:c.*693C= XP_016869870.1:n.*693C=
XM_017014382.2:c.*693C= XP_016869871.1:n.*693C=