Canonical Allele Identifier: CA364732604

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75087586C>G , CM000668.2:g.75087586C>G	GRCh38
NC_000006.11:g.75797302C>G , CM000668.1:g.75797302C>G	GRCh37
NC_000006.10:g.75854022C>G	NCBI36
NG_042181.1:g.123322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.9172G>C MANE Select	ENSP00000325146.8:p.Gly3058Arg
ENST00000680981.1:n.581G>C
ENST00000681086.1:n.955G>C
ENST00000322507.12:c.9172G>C	ENSP00000325146.8:p.Gly3058Arg
ENST00000345356.10:c.5680G>C	ENSP00000305147.9:p.Gly1894Arg
ENST00000416123.6:c.8944G>C	ENSP00000412864.2:p.Gly2982Arg
ENST00000425443.6:c.2086G>C	ENSP00000399812.2:p.Gly696Arg
ENST00000483888.6:c.9160G>C	ENSP00000421216.1:p.Gly3054Arg
ENST00000615798.4:c.5605G>C	ENSP00000483232.1:p.Gly1869Arg
NM_004370.5:c.9172G>C	NP_004361.3:p.Gly3058Arg
NM_080645.2:c.5680G>C	NP_542376.2:p.Gly1894Arg
XM_011535434.1:c.9172G>C	XP_011533736.1:p.Gly3058Arg
XM_011535435.1:c.8899G>C	XP_011533737.1:p.Gly2967Arg
XM_011535436.1:c.5680G>C	XP_011533738.1:p.Gly1894Arg
XM_011535436.2:c.5680G>C	XP_011533738.1:p.Gly1894Arg
XM_017010252.2:c.9136G>C	XP_016865741.1:p.Gly3046Arg
NM_004370.6:c.9172G>C MANE Select	NP_004361.3:p.Gly3058Arg
NM_080645.3:c.5680G>C	NP_542376.2:p.Gly1894Arg