Canonical Allele Identifier: CA3893401

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 475869
• ClinVar RCV Id: RCV000531413 ; RCV001420886 ; RCV002466535 ; RCV004024346
• dbSNP Id: rs115246424
• ExAC: 6:75855119 T / C
• gnomAD v2: 6-75855119-T-C
• gnomAD v3: 6-75145403-T-C
• gnomAD v4: 6-75145403-T-C
• MyVariant Identifiers: chr6:g.75855119T>C (hg19) ; chr6:g.75145403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75145403T>C , CM000668.2:g.75145403T>C	GRCh38
NC_000006.11:g.75855119T>C , CM000668.1:g.75855119T>C	GRCh37
NC_000006.10:g.75911839T>C	NCBI36
NG_042181.1:g.65505A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.4613A>G MANE Select	ENSP00000325146.8:p.Asn1538Ser
ENST00000322507.12:c.4613A>G	ENSP00000325146.8:p.Asn1538Ser
ENST00000345356.10:c.1121A>G	ENSP00000305147.9:p.Asn374Ser
ENST00000416123.6:c.4613A>G	ENSP00000412864.2:p.Asn1538Ser
ENST00000419671.1:c.837A>G
ENST00000474564.1:n.237A>G
ENST00000483888.6:c.4613A>G	ENSP00000421216.1:p.Asn1538Ser
ENST00000615798.4:c.1046A>G	ENSP00000483232.1:p.Asn349Ser
NM_004370.5:c.4613A>G	NP_004361.3:p.Asn1538Ser
NM_080645.2:c.1121A>G	NP_542376.2:p.Asn374Ser
XM_011535434.1:c.4613A>G	XP_011533736.1:p.Asn1538Ser
XM_011535435.1:c.4340A>G	XP_011533737.1:p.Asn1447Ser
XM_011535436.1:c.1121A>G	XP_011533738.1:p.Asn374Ser
XM_011535436.2:c.1121A>G	XP_011533738.1:p.Asn374Ser
XM_017010252.2:c.4577A>G	XP_016865741.1:p.Asn1526Ser
NM_004370.6:c.4613A>G MANE Select	NP_004361.3:p.Asn1538Ser
NM_080645.3:c.1121A>G	NP_542376.2:p.Asn374Ser