Canonical Allele Identifier: CA1084924503

Gene: COL23A1

Linked Data

• dbSNP Id: rs1765149678
• gnomAD v3: 5-178413435-A-G
• gnomAD v4: 5-178413435-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.178413435A>G , CM000667.2:g.178413435A>G	GRCh38
NC_000005.9:g.177840436A>G , CM000667.1:g.177840436A>G	GRCh37
NC_000005.8:g.177773042A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000390654.8:c.362-106516T>C MANE Select	ENSP00000375069.3:n.362-106516T>C
ENST00000407622.3:c.-69-106516T>C	ENSP00000385092.3:n.-69-106516T>C
ENST00000679896.1:c.-69-106516T>C	ENSP00000505024.1:n.-69-106516T>C
ENST00000680268.1:c.-69-106516T>C	ENSP00000504948.1:n.-69-106516T>C
ENST00000680889.1:c.-69-106516T>C	ENSP00000505009.1:n.-69-106516T>C
ENST00000681261.1:c.-69-106516T>C	ENSP00000505816.1:n.-69-106516T>C
ENST00000390654.7:c.362-106516T>C	ENSP00000375069.3:n.362-106516T>C
NM_173465.3:c.362-106516T>C	NP_775736.2:n.362-106516T>C
XM_006714933.2:c.362-106516T>C	XP_006714996.1:n.362-106516T>C
XM_006714934.2:c.362-106516T>C	XP_006714997.1:n.362-106516T>C
XM_006714935.2:c.362-106516T>C	XP_006714998.1:n.362-106516T>C
XM_006714936.2:c.362-106516T>C	XP_006714999.1:n.362-106516T>C
XM_011534688.1:c.362-106516T>C	XP_011532990.1:n.362-106516T>C
XM_011534689.1:c.362-106516T>C	XP_011532991.1:n.362-106516T>C
XM_011534690.1:c.362-106516T>C	XP_011532992.1:n.362-106516T>C
XM_011534691.1:c.362-106516T>C	XP_011532993.1:n.362-106516T>C
XM_011534692.1:c.80-106516T>C	XP_011532994.1:n.80-106516T>C
XM_006714933.3:c.362-106516T>C	XP_006714996.1:n.362-106516T>C
XM_006714934.3:c.362-106516T>C	XP_006714997.1:n.362-106516T>C
XM_006714935.3:c.362-106516T>C	XP_006714998.1:n.362-106516T>C
XM_006714936.3:c.362-106516T>C	XP_006714999.1:n.362-106516T>C
XM_011534688.2:c.362-106516T>C	XP_011532990.1:n.362-106516T>C
XM_011534689.2:c.362-106516T>C	XP_011532991.1:n.362-106516T>C
XM_011534690.2:c.362-106516T>C	XP_011532992.1:n.362-106516T>C
XM_011534691.2:c.362-106516T>C	XP_011532993.1:n.362-106516T>C
XM_011534692.2:c.80-106516T>C	XP_011532994.1:n.80-106516T>C
XM_017010018.1:c.362-106516T>C	XP_016865507.1:n.362-106516T>C
NM_173465.4:c.362-106516T>C MANE Select	NP_775736.2:n.362-106516T>C