Canonical Allele Identifier: CA569682526

Gene: NT5DC1 COL10A1

Linked Data

• dbSNP Id: rs1344069807
• gnomAD v2: 6-116451886-G-C
• gnomAD v3: 6-116130723-G-C
• gnomAD v4: 6-116130723-G-C
• MyVariant Identifiers: chr6:g.116451886G>C (hg19) ; chr6:g.116130723G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116130723G>C , CM000668.2:g.116130723G>C	GRCh38
NC_000006.11:g.116451886G>C , CM000668.1:g.116451886G>C	GRCh37
NC_000006.10:g.116558579G>C	NCBI36
NG_008032.1:g.411C>G
NG_021351.1:g.34888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319550.9:c.529+12778G>C (NT5DC1) MANE Select	ENSP00000326858.3:n.529+12778G>C
ENST00000319550.8:c.529+12778G>C (NT5DC1)	ENSP00000326858.3:n.529+12778G>C
ENST00000418500.1:c.-15-5216C>G (COL10A1)	ENSP00000392712.1:n.-15-5216C>G
ENST00000419791.3:c.529+12778G>C (NT5DC1)	ENSP00000393578.1:n.529+12778G>C
ENST00000460749.1:c.27+12778G>C (NT5DC1)
NM_152729.2:c.529+12778G>C (NT5DC1)	NP_689942.2:n.529+12778G>C
XM_006715333.2:c.-15-5216C>G (COL10A1)	XP_006715396.1:n.-15-5216C>G
XM_006715377.2:c.529+12778G>C (NT5DC1)	XP_006715440.1:n.529+12778G>C
XM_006715378.2:c.529+12778G>C (NT5DC1)	XP_006715441.1:n.529+12778G>C
XM_011535432.1:c.-15-5216C>G (COL10A1)	XP_011533734.1:n.-15-5216C>G
XM_011535433.1:c.-15-5216C>G (COL10A1)	XP_011533735.1:n.-15-5216C>G
XM_006715333.3:c.-15-5216C>G (COL10A1)	XP_006715396.1:n.-15-5216C>G
XM_006715378.3:c.529+12778G>C (NT5DC1)	XP_006715441.1:n.529+12778G>C
XM_011535432.3:c.-15-5216C>G (COL10A1)	XP_011533734.1:n.-15-5216C>G
XM_011535433.3:c.-15-5216C>G (COL10A1)	XP_011533735.1:n.-15-5216C>G
NM_152729.3:c.529+12778G>C (NT5DC1) MANE Select	NP_689942.2:n.529+12778G>C