Canonical Allele Identifier: CA3893133

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75134839C>T , CM000668.2:g.75134839C>T	GRCh38
NC_000006.11:g.75844555C>T , CM000668.1:g.75844555C>T	GRCh37
NC_000006.10:g.75901275C>T	NCBI36
NG_042181.1:g.76069G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.5411G>A MANE Select	NP_004361.3:p.Arg1804Gln
ENST00000322507.13:c.5411G>A MANE Select	ENSP00000325146.8:p.Arg1804Gln
NM_004370.5:c.5411G>A	NP_004361.3:p.Arg1804Gln
NM_080645.2:c.1919G>A	NP_542376.2:p.Arg640Gln
NM_080645.3:c.1919G>A	NP_542376.2:p.Arg640Gln
ENST00000322507.12:c.5411G>A	ENSP00000325146.8:p.Arg1804Gln
ENST00000345356.10:c.1919G>A	ENSP00000305147.9:p.Arg640Gln
ENST00000416123.6:c.5411G>A	ENSP00000412864.2:p.Arg1804Gln
ENST00000419671.1:c.1614G>A
ENST00000483888.6:c.5411G>A	ENSP00000421216.1:p.Arg1804Gln
ENST00000615798.4:c.1844G>A	ENSP00000483232.1:p.Arg615Gln
XM_011535434.1:c.5411G>A	XP_011533736.1:p.Arg1804Gln
XM_011535435.1:c.5138G>A	XP_011533737.1:p.Arg1713Gln
XM_011535436.1:c.1919G>A	XP_011533738.1:p.Arg640Gln
XM_011535436.2:c.1919G>A	XP_011533738.1:p.Arg640Gln
XM_017010252.2:c.5375G>A	XP_016865741.1:p.Arg1792Gln