Canonical Allele Identifier: CA127220
Gene: COL10A1 HGNC NCBI
NT5DC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17477
ClinVar RCV Id: RCV000019029
dbSNP Id: rs111033552

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116120105A>G , CM000668.2:g.116120105A>G GRCh38
NC_000006.11:g.116441268A>G , CM000668.1:g.116441268A>G GRCh37
NC_000006.10:g.116547961A>G NCBI36
NG_008032.1:g.11029T>C
NG_021351.1:g.24270A>G

Transcript Alleles

HGVS Amino-acid change
NM_000493.3:c.2011T>C (COL10A1) VV NP_000484.2:p.Ser671Pro
NM_152729.2:c.529+2160A>G (NT5DC1) VV NP_689942.2:p.=
XM_006715333.2:c.2011T>C (COL10A1) XP_006715396.1:p.Ser671Pro
XM_006715377.2:c.529+2160A>G (NT5DC1) XP_006715440.1:p.=
XM_006715378.2:c.529+2160A>G (NT5DC1) XP_006715441.1:p.=
XM_011535432.1:c.2011T>C (COL10A1) XP_011533734.1:p.Ser671Pro
XM_011535433.1:c.2011T>C (COL10A1) XP_011533735.1:p.Ser671Pro
XM_006715333.3:c.2011T>C (COL10A1) XP_006715396.1:p.Ser671Pro
XM_006715378.3:c.529+2160A>G (NT5DC1) XP_006715441.1:p.=
XM_011535432.3:c.2011T>C (COL10A1) XP_011533734.1:p.Ser671Pro
XM_011535433.3:c.2011T>C (COL10A1) XP_011533735.1:p.Ser671Pro
XM_017010248.1:c.2011T>C (COL10A1) XP_016865737.1:p.Ser671Pro
NM_000493.4:c.2011T>C (COL10A1) VV NP_000484.2:p.Ser671Pro
NM_152729.3:c.529+2160A>G (NT5DC1) VV NP_689942.2:p.=
ENST00000243222.8:c.2011T>C ENSP00000243222.4:p.Ser671Pro
ENST00000319550.8:c.529+2160A>G ENSP00000326858.3:p.=
ENST00000327673.4:c.2011T>C ENSP00000327368.4:p.Ser671Pro
ENST00000419791.3:c.529+2160A>G ENSP00000393578.1:p.=
ENST00000460749.1:n.27+2160A>G