Canonical Allele Identifier: CA364732712

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75087614C>A , CM000668.2:g.75087614C>A	GRCh38
NC_000006.11:g.75797330C>A , CM000668.1:g.75797330C>A	GRCh37
NC_000006.10:g.75854050C>A	NCBI36
NG_042181.1:g.123294G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.9144G>T MANE Select	NP_004361.3:p.Gln3048His
ENST00000322507.13:c.9144G>T MANE Select	ENSP00000325146.8:p.Gln3048His
NM_004370.5:c.9144G>T	NP_004361.3:p.Gln3048His
NM_080645.2:c.5652G>T	NP_542376.2:p.Gln1884His
NM_080645.3:c.5652G>T	NP_542376.2:p.Gln1884His
ENST00000322507.12:c.9144G>T	ENSP00000325146.8:p.Gln3048His
ENST00000345356.10:c.5652G>T	ENSP00000305147.9:p.Gln1884His
ENST00000416123.6:c.8916G>T	ENSP00000412864.2:p.Gln2972His
ENST00000425443.6:c.2058G>T	ENSP00000399812.2:p.Gln686His
ENST00000483888.6:c.9132G>T	ENSP00000421216.1:p.Gln3044His
ENST00000615798.4:c.5577G>T	ENSP00000483232.1:p.Gln1859His
ENST00000680981.1:n.553G>T
ENST00000681086.1:n.927G>T
XM_011535434.1:c.9144G>T	XP_011533736.1:p.Gln3048His
XM_011535435.1:c.8871G>T	XP_011533737.1:p.Gln2957His
XM_011535436.1:c.5652G>T	XP_011533738.1:p.Gln1884His
XM_011535436.2:c.5652G>T	XP_011533738.1:p.Gln1884His
XM_017010252.2:c.9108G>T	XP_016865741.1:p.Gln3036His