Canonical Allele Identifier: CA3892135

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75091361C>T , CM000668.2:g.75091361C>T	GRCh38
NC_000006.11:g.75801077C>T , CM000668.1:g.75801077C>T	GRCh37
NC_000006.10:g.75857797C>T	NCBI36
NG_042181.1:g.119547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.8714G>A MANE Select	ENSP00000325146.8:p.Arg2905Gln
ENST00000322507.12:c.8714G>A	ENSP00000325146.8:p.Arg2905Gln
ENST00000345356.10:c.5222G>A	ENSP00000305147.9:p.Arg1741Gln
ENST00000416123.6:c.8486G>A	ENSP00000412864.2:p.Arg2829Gln
ENST00000425443.6:c.1628G>A	ENSP00000399812.2:p.Arg543Gln
ENST00000483888.6:c.8702G>A	ENSP00000421216.1:p.Arg2901Gln
ENST00000511023.1:n.329G>A
ENST00000615798.4:c.5147G>A	ENSP00000483232.1:p.Arg1716Gln
NM_004370.5:c.8714G>A	NP_004361.3:p.Arg2905Gln
NM_080645.2:c.5222G>A	NP_542376.2:p.Arg1741Gln
XM_011535434.1:c.8714G>A	XP_011533736.1:p.Arg2905Gln
XM_011535435.1:c.8441G>A	XP_011533737.1:p.Arg2814Gln
XM_011535436.1:c.5222G>A	XP_011533738.1:p.Arg1741Gln
XM_011535436.2:c.5222G>A	XP_011533738.1:p.Arg1741Gln
XM_017010252.2:c.8678G>A	XP_016865741.1:p.Arg2893Gln
NM_004370.6:c.8714G>A MANE Select	NP_004361.3:p.Arg2905Gln
NM_080645.3:c.5222G>A	NP_542376.2:p.Arg1741Gln