Canonical Allele Identifier: CA1977558581
Gene: BEST1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61950336G= , CM000673.2:g.61950336G= GRCh38
NC_000011.9:g.61717808G= , CM000673.1:g.61717808G= GRCh37
NC_000011.8:g.61474384G= NCBI36
NG_009033.1:g.5453G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378043.8:c.-128G= ENSP00000367282.4:n.-128G=
ENST00000534553.5:c.-303G= ENSP00000431189.1:n.-303G=
NM_001139443.1:c.-120G= NP_001132915.1:n.-120G=
NM_001300786.1:c.-120G= NP_001287715.1:n.-120G=
NM_001300787.1:c.-120G= NP_001287716.1:n.-120G=
NM_004183.3:c.-128G= NP_004174.1:n.-128G=
XM_005274210.2:c.-128G= XP_005274267.1:n.-128G=
XM_005274216.2:c.-120G= XP_005274273.1:n.-120G=
XM_005274218.3:c.-303G= XP_005274275.1:n.-303G=
XM_005274219.2:c.-128G= XP_005274276.1:n.-128G=
XM_005274221.2:c.-128G= XP_005274278.1:n.-128G=
XM_011545229.1:c.-36-1435G= XP_011543531.1:n.-36-1435G=
XM_011545230.1:c.59+3521G= XP_011543532.1:n.59+3521G=
XM_011545231.1:c.-303G= XP_011543533.1:n.-303G=
XM_011545232.1:c.-128G= XP_011543534.1:n.-128G=
NM_001363592.1:c.-128G= NP_001350521.1:n.-128G=
NR_134580.1:n.453G=
XM_005274210.4:c.-128G= XP_005274267.1:n.-128G=
XM_005274216.4:c.-120G= XP_005274273.1:n.-120G=
XM_005274219.4:c.-128G= XP_005274276.1:n.-128G=
XM_005274221.4:c.-128G= XP_005274278.1:n.-128G=
XM_011545229.3:c.-36-1435G= XP_011543531.1:n.-36-1435G=
XM_011545230.3:c.59+3521G= XP_011543532.1:n.59+3521G=
XR_001747952.2:n.559G=
XR_001747953.2:n.563G=
XR_001747954.2:n.563G=