Canonical Allele Identifier: CA3892808

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 475888
• ClinVar RCV Id: RCV000532029 ; RCV001569986 ; RCV004526704
• dbSNP Id: rs200450866
• ExAC: 6:75836079 A / G
• gnomAD v2: 6-75836079-A-G
• gnomAD v3: 6-75126363-A-G
• gnomAD v4: 6-75126363-A-G
• MyVariant Identifiers: chr6:g.75836079A>G (hg19) ; chr6:g.75126363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75126363A>G , CM000668.2:g.75126363A>G	GRCh38
NC_000006.11:g.75836079A>G , CM000668.1:g.75836079A>G	GRCh37
NC_000006.10:g.75892799A>G	NCBI36
NG_042181.1:g.84545T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.6448T>C MANE Select	ENSP00000325146.8:p.Tyr2150His
ENST00000322507.12:c.6448T>C	ENSP00000325146.8:p.Tyr2150His
ENST00000345356.10:c.2956T>C	ENSP00000305147.9:p.Tyr986His
ENST00000416123.6:c.6448T>C	ENSP00000412864.2:p.Tyr2150His
ENST00000483888.6:c.6448T>C	ENSP00000421216.1:p.Tyr2150His
ENST00000615798.4:c.2881T>C	ENSP00000483232.1:p.Tyr961His
NM_004370.5:c.6448T>C	NP_004361.3:p.Tyr2150His
NM_080645.2:c.2956T>C	NP_542376.2:p.Tyr986His
XM_011535434.1:c.6448T>C	XP_011533736.1:p.Tyr2150His
XM_011535435.1:c.6175T>C	XP_011533737.1:p.Tyr2059His
XM_011535436.1:c.2956T>C	XP_011533738.1:p.Tyr986His
XM_011535436.2:c.2956T>C	XP_011533738.1:p.Tyr986His
XM_017010252.2:c.6412T>C	XP_016865741.1:p.Tyr2138His
NM_004370.6:c.6448T>C MANE Select	NP_004361.3:p.Tyr2150His
NM_080645.3:c.2956T>C	NP_542376.2:p.Tyr986His