Canonical Allele Identifier: CA16250488
Gene: COL23A1 HGNC NCBI

Linked Data

dbSNP Id: rs10070303

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178413381C>T , CM000667.2:g.178413381C>T GRCh38
NC_000005.9:g.177840382C>T , CM000667.1:g.177840382C>T GRCh37
NC_000005.8:g.177772988C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000390654.8:c.362-106462G>A MANE Select ENSP00000375069.3:p.=
ENST00000407622.3:c.-69-106462G>A ENSP00000385092.3:p.=
ENST00000679896.1:c.-69-106462G>A ENSP00000505024.1:p.=
ENST00000680268.1:c.-69-106462G>A ENSP00000504948.1:p.=
ENST00000680889.1:c.-69-106462G>A ENSP00000505009.1:p.=
ENST00000681261.1:c.-69-106462G>A ENSP00000505816.1:p.=
ENST00000390654.7:c.362-106462G>A ENSP00000375069.3:p.=
NM_173465.3:c.362-106462G>A NP_775736.2:p.=
XM_006714933.2:c.362-106462G>A XP_006714996.1:p.=
XM_006714934.2:c.362-106462G>A XP_006714997.1:p.=
XM_006714935.2:c.362-106462G>A XP_006714998.1:p.=
XM_006714936.2:c.362-106462G>A XP_006714999.1:p.=
XM_011534688.1:c.362-106462G>A XP_011532990.1:p.=
XM_011534689.1:c.362-106462G>A XP_011532991.1:p.=
XM_011534690.1:c.362-106462G>A XP_011532992.1:p.=
XM_011534691.1:c.362-106462G>A XP_011532993.1:p.=
XM_011534692.1:c.80-106462G>A XP_011532994.1:p.=
XM_006714933.3:c.362-106462G>A XP_006714996.1:p.=
XM_006714934.3:c.362-106462G>A XP_006714997.1:p.=
XM_006714935.3:c.362-106462G>A XP_006714998.1:p.=
XM_006714936.3:c.362-106462G>A XP_006714999.1:p.=
XM_011534688.2:c.362-106462G>A XP_011532990.1:p.=
XM_011534689.2:c.362-106462G>A XP_011532991.1:p.=
XM_011534690.2:c.362-106462G>A XP_011532992.1:p.=
XM_011534691.2:c.362-106462G>A XP_011532993.1:p.=
XM_011534692.2:c.80-106462G>A XP_011532994.1:p.=
XM_017010018.1:c.362-106462G>A XP_016865507.1:p.=
NM_173465.4:c.362-106462G>A MANE Select NP_775736.2:p.=