Canonical Allele Identifier: CA364740323

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75105213C>T , CM000668.2:g.75105213C>T	GRCh38
NC_000006.11:g.75814929C>T , CM000668.1:g.75814929C>T	GRCh37
NC_000006.10:g.75871649C>T	NCBI36
NG_042181.1:g.105695G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8258G>A MANE Select	NP_004361.3:p.Gly2753Asp
ENST00000322507.13:c.8258G>A MANE Select	ENSP00000325146.8:p.Gly2753Asp
NM_004370.5:c.8258G>A	NP_004361.3:p.Gly2753Asp
NM_080645.2:c.4766G>A	NP_542376.2:p.Gly1589Asp
NM_080645.3:c.4766G>A	NP_542376.2:p.Gly1589Asp
ENST00000322507.12:c.8258G>A	ENSP00000325146.8:p.Gly2753Asp
ENST00000345356.10:c.4766G>A	ENSP00000305147.9:p.Gly1589Asp
ENST00000416123.6:c.8030G>A	ENSP00000412864.2:p.Gly2677Asp
ENST00000425443.6:c.1172G>A	ENSP00000399812.2:p.Gly391Asp
ENST00000483888.6:c.8258G>A	ENSP00000421216.1:p.Gly2753Asp
ENST00000615798.4:c.4691G>A	ENSP00000483232.1:p.Gly1564Asp
XM_011535434.1:c.8258G>A	XP_011533736.1:p.Gly2753Asp
XM_011535435.1:c.7985G>A	XP_011533737.1:p.Gly2662Asp
XM_011535436.1:c.4766G>A	XP_011533738.1:p.Gly1589Asp
XM_011535436.2:c.4766G>A	XP_011533738.1:p.Gly1589Asp
XM_017010252.2:c.8222G>A	XP_016865741.1:p.Gly2741Asp