Canonical Allele Identifier: CA14873852
Gene: ABCG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42218507G>A , CM000683.2:g.42218507G>A GRCh38
NC_000021.8:g.43638617G>A , CM000683.1:g.43638617G>A GRCh37
NC_000021.7:g.42511686G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000347800.6:c.33+2319G>A ENSP00000291524.4:n.33+2319G>A
ENST00000398457.6:c.49-7164G>A ENSP00000381475.2:n.49-7164G>A
ENST00000462050.5:n.227-7164G>A
NM_207627.1:c.49-7164G>A NP_997510.1:n.49-7164G>A
NM_207628.1:c.-24-7164G>A NP_997511.1:n.-24-7164G>A
NM_207629.1:c.33+2319G>A NP_997512.1:n.33+2319G>A
XR_937748.1:n.2744+1643C>T
XR_937748.3:n.5512+1643C>T
NM_207627.2:c.49-7164G>A NP_997510.1:n.49-7164G>A
NM_207629.2:c.33+2319G>A NP_997512.1:n.33+2319G>A
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