Canonical Allele Identifier: CA3891981

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75086552C>T , CM000668.2:g.75086552C>T	GRCh38
NC_000006.11:g.75796268C>T , CM000668.1:g.75796268C>T	GRCh37
NC_000006.10:g.75852988C>T	NCBI36
NG_042181.1:g.124356G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.9187G>A MANE Select	NP_004361.3:p.Gly3063Ser
ENST00000322507.13:c.9187G>A MANE Select	ENSP00000325146.8:p.Gly3063Ser
NM_004370.5:c.9187G>A	NP_004361.3:p.Gly3063Ser
NM_080645.2:c.5695G>A	NP_542376.2:p.Gly1899Ser
NM_080645.3:c.5695G>A	NP_542376.2:p.Gly1899Ser
ENST00000322507.12:c.9187G>A	ENSP00000325146.8:p.Gly3063Ser
ENST00000345356.10:c.5695G>A	ENSP00000305147.9:p.Gly1899Ser
ENST00000416123.6:c.8959G>A	ENSP00000412864.2:p.Gly2987Ser
ENST00000425443.6:c.2095+1025G>A	ENSP00000399812.2:n.2095+1025G>A
ENST00000615798.4:c.5620G>A	ENSP00000483232.1:p.Gly1874Ser
ENST00000680981.1:n.596G>A
ENST00000681086.1:n.970G>A
XM_011535434.1:c.9181+1025G>A	XP_011533736.1:n.9181+1025G>A
XM_011535435.1:c.8908+1025G>A	XP_011533737.1:n.8908+1025G>A
XM_011535436.1:c.5689+1025G>A	XP_011533738.1:n.5689+1025G>A
XM_011535436.2:c.5689+1025G>A	XP_011533738.1:n.5689+1025G>A
XM_017010252.2:c.9145+1025G>A	XP_016865741.1:n.9145+1025G>A