Canonical Allele Identifier: CA3892726

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75124048G>C , CM000668.2:g.75124048G>C	GRCh38
NC_000006.11:g.75833764G>C , CM000668.1:g.75833764G>C	GRCh37
NC_000006.10:g.75890484G>C	NCBI36
NG_042181.1:g.86860C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.6771C>G MANE Select	NP_004361.3:p.His2257Gln
ENST00000322507.13:c.6771C>G MANE Select	ENSP00000325146.8:p.His2257Gln
NM_004370.5:c.6771C>G	NP_004361.3:p.His2257Gln
NM_080645.2:c.3279C>G	NP_542376.2:p.His1093Gln
NM_080645.3:c.3279C>G	NP_542376.2:p.His1093Gln
ENST00000322507.12:c.6771C>G	ENSP00000325146.8:p.His2257Gln
ENST00000345356.10:c.3279C>G	ENSP00000305147.9:p.His1093Gln
ENST00000416123.6:c.6771C>G	ENSP00000412864.2:p.His2257Gln
ENST00000483888.6:c.6771C>G	ENSP00000421216.1:p.His2257Gln
ENST00000615798.4:c.3204C>G	ENSP00000483232.1:p.His1068Gln
XM_011535434.1:c.6771C>G	XP_011533736.1:p.His2257Gln
XM_011535435.1:c.6498C>G	XP_011533737.1:p.His2166Gln
XM_011535436.1:c.3279C>G	XP_011533738.1:p.His1093Gln
XM_011535436.2:c.3279C>G	XP_011533738.1:p.His1093Gln
XM_017010252.2:c.6735C>G	XP_016865741.1:p.His2245Gln