Canonical Allele Identifier: CA10970526
Gene: COL11A1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs11809524

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102993981C>T , CM000663.2:g.102993981C>T GRCh38
NC_000001.9:g.103232125C>T NCBI36
NC_000001.10:g.103459537C>T , CM000663.1:g.103459537C>T GRCh37
NG_008033.1:g.119516G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000353414.8:c.2223+1883G>A ENSP00000302551.6:p.=
ENST00000358392.6:c.2376+1883G>A ENSP00000351163.2:p.=
ENST00000370096.7:c.2340+1883G>A ENSP00000359114.3:p.=
ENST00000512756.5:c.1992+1883G>A ENSP00000426533.1:p.=
ENST00000635193.1:n.1658+1883G>A
NM_001190709.1:c.2223+1883G>A VV NP_001177638.1:p.=
NM_001854.3:c.2340+1883G>A VV NP_001845.3:p.=
NM_080629.2:c.2376+1883G>A VV NP_542196.2:p.=
NM_080630.3:c.1992+1883G>A VV NP_542197.3:p.=
XM_011540719.1:c.2340+1883G>A XP_011539021.1:p.=
XM_011540720.1:c.573+1883G>A XP_011539022.1:p.=
XM_011540721.1:c.-89+1883G>A XP_011539023.1:p.=
XR_946545.1:n.2738+1883G>A
NR_134980.1:n.2658+1883G>A
XM_017000334.1:c.2493+1883G>A XP_016855823.1:p.=
XM_017000335.1:c.2487+1883G>A XP_016855824.1:p.=
XM_017000336.1:c.2493+1883G>A XP_016855825.1:p.=
XM_017000337.1:c.891+1883G>A XP_016855826.1:p.=