Canonical Allele Identifier: CA365386325

Gene: NT5DC1 COL10A1

Linked Data

• ClinVar Variation Id: 2656861
• ClinVar RCV Id: RCV003432013
• gnomAD v4: 6-116120162-G-A
• MyVariant Identifiers: chr6:g.116441325G>A (hg19) ; chr6:g.116120162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116120162G>A , CM000668.2:g.116120162G>A	GRCh38
NC_000006.11:g.116441325G>A , CM000668.1:g.116441325G>A	GRCh37
NC_000006.10:g.116548018G>A	NCBI36
NG_008032.1:g.10972C>T
NG_021351.1:g.24327G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319550.9:c.529+2217G>A (NT5DC1) MANE Select	ENSP00000326858.3:n.529+2217G>A
ENST00000651968.1:c.1954C>T (COL10A1) MANE Select	ENSP00000498802.1:p.Leu652Phe
ENST00000243222.8:c.1954C>T (COL10A1)	ENSP00000243222.4:p.Leu652Phe
ENST00000319550.8:c.529+2217G>A (NT5DC1)	ENSP00000326858.3:n.529+2217G>A
ENST00000327673.4:c.1954C>T (COL10A1)	ENSP00000327368.4:p.Leu652Phe
ENST00000419791.3:c.529+2217G>A (NT5DC1)	ENSP00000393578.1:n.529+2217G>A
ENST00000460749.1:c.27+2217G>A (NT5DC1)
NM_000493.3:c.1954C>T (COL10A1)	NP_000484.2:p.Leu652Phe
NM_152729.2:c.529+2217G>A (NT5DC1)	NP_689942.2:n.529+2217G>A
XM_006715333.2:c.1954C>T (COL10A1)	XP_006715396.1:p.Leu652Phe
XM_006715377.2:c.529+2217G>A (NT5DC1)	XP_006715440.1:n.529+2217G>A
XM_006715378.2:c.529+2217G>A (NT5DC1)	XP_006715441.1:n.529+2217G>A
XM_011535432.1:c.1954C>T (COL10A1)	XP_011533734.1:p.Leu652Phe
XM_011535433.1:c.1954C>T (COL10A1)	XP_011533735.1:p.Leu652Phe
XM_006715333.3:c.1954C>T (COL10A1)	XP_006715396.1:p.Leu652Phe
XM_006715378.3:c.529+2217G>A (NT5DC1)	XP_006715441.1:n.529+2217G>A
XM_011535432.3:c.1954C>T (COL10A1)	XP_011533734.1:p.Leu652Phe
XM_011535433.3:c.1954C>T (COL10A1)	XP_011533735.1:p.Leu652Phe
XM_017010248.1:c.1954C>T (COL10A1)	XP_016865737.1:p.Leu652Phe
NM_000493.4:c.1954C>T (COL10A1) MANE Select	NP_000484.2:p.Leu652Phe
NM_152729.3:c.529+2217G>A (NT5DC1) MANE Select	NP_689942.2:n.529+2217G>A