Canonical Allele Identifier: CA3891982

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75086553G>A , CM000668.2:g.75086553G>A	GRCh38
NC_000006.11:g.75796269G>A , CM000668.1:g.75796269G>A	GRCh37
NC_000006.10:g.75852989G>A	NCBI36
NG_042181.1:g.124355C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.9186C>T MANE Select	NP_004361.3:p.Ser3062=
ENST00000322507.13:c.9186C>T MANE Select	ENSP00000325146.8:p.Ser3062=
NM_004370.5:c.9186C>T	NP_004361.3:p.Ser3062=
NM_080645.2:c.5694C>T	NP_542376.2:p.Ser1898=
NM_080645.3:c.5694C>T	NP_542376.2:p.Ser1898=
ENST00000322507.12:c.9186C>T	ENSP00000325146.8:p.Ser3062=
ENST00000345356.10:c.5694C>T	ENSP00000305147.9:p.Ser1898=
ENST00000416123.6:c.8958C>T	ENSP00000412864.2:p.Ser2986=
ENST00000425443.6:c.2095+1024C>T	ENSP00000399812.2:n.2095+1024C>T
ENST00000615798.4:c.5619C>T	ENSP00000483232.1:p.Ser1873=
ENST00000680981.1:n.595C>T
ENST00000681086.1:n.969C>T
XM_011535434.1:c.9181+1024C>T	XP_011533736.1:n.9181+1024C>T
XM_011535435.1:c.8908+1024C>T	XP_011533737.1:n.8908+1024C>T
XM_011535436.1:c.5689+1024C>T	XP_011533738.1:n.5689+1024C>T
XM_011535436.2:c.5689+1024C>T	XP_011533738.1:n.5689+1024C>T
XM_017010252.2:c.9145+1024C>T	XP_016865741.1:n.9145+1024C>T