Canonical Allele Identifier: CA3893391

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75145366G>C , CM000668.2:g.75145366G>C	GRCh38
NC_000006.11:g.75855082G>C , CM000668.1:g.75855082G>C	GRCh37
NC_000006.10:g.75911802G>C	NCBI36
NG_042181.1:g.65542C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.4650C>G MANE Select	NP_004361.3:p.His1550Gln
ENST00000322507.13:c.4650C>G MANE Select	ENSP00000325146.8:p.His1550Gln
NM_004370.5:c.4650C>G	NP_004361.3:p.His1550Gln
NM_080645.2:c.1158C>G	NP_542376.2:p.His386Gln
NM_080645.3:c.1158C>G	NP_542376.2:p.His386Gln
ENST00000322507.12:c.4650C>G	ENSP00000325146.8:p.His1550Gln
ENST00000345356.10:c.1158C>G	ENSP00000305147.9:p.His386Gln
ENST00000416123.6:c.4650C>G	ENSP00000412864.2:p.His1550Gln
ENST00000419671.1:c.874C>G
ENST00000474564.1:n.274C>G
ENST00000483888.6:c.4650C>G	ENSP00000421216.1:p.His1550Gln
ENST00000615798.4:c.1083C>G	ENSP00000483232.1:p.His361Gln
XM_011535434.1:c.4650C>G	XP_011533736.1:p.His1550Gln
XM_011535435.1:c.4377C>G	XP_011533737.1:p.His1459Gln
XM_011535436.1:c.1158C>G	XP_011533738.1:p.His386Gln
XM_011535436.2:c.1158C>G	XP_011533738.1:p.His386Gln
XM_017010252.2:c.4614C>G	XP_016865741.1:p.His1538Gln