Canonical Allele Identifier: CA364733849

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75133291A>T , CM000668.2:g.75133291A>T	GRCh38
NC_000006.11:g.75843007A>T , CM000668.1:g.75843007A>T	GRCh37
NC_000006.10:g.75899727A>T	NCBI36
NG_042181.1:g.77617T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.5794+2T>A MANE Select	NP_004361.3:n.5794+2T>A
ENST00000322507.13:c.5794+2T>A MANE Select	ENSP00000325146.8:n.5794+2T>A
NM_004370.5:c.5794+2T>A	NP_004361.3:n.5794+2T>A
NM_080645.2:c.2302+2T>A	NP_542376.2:n.2302+2T>A
NM_080645.3:c.2302+2T>A	NP_542376.2:n.2302+2T>A
ENST00000322507.12:c.5794+2T>A	ENSP00000325146.8:n.5794+2T>A
ENST00000345356.10:c.2302+2T>A	ENSP00000305147.9:n.2302+2T>A
ENST00000416123.6:c.5794+2T>A	ENSP00000412864.2:n.5794+2T>A
ENST00000483888.6:c.5794+2T>A	ENSP00000421216.1:n.5794+2T>A
ENST00000615798.4:c.2227+2T>A	ENSP00000483232.1:n.2227+2T>A
XM_011535434.1:c.5794+2T>A	XP_011533736.1:n.5794+2T>A
XM_011535435.1:c.5521+2T>A	XP_011533737.1:n.5521+2T>A
XM_011535436.1:c.2302+2T>A	XP_011533738.1:n.2302+2T>A
XM_011535436.2:c.2302+2T>A	XP_011533738.1:n.2302+2T>A
XM_017010252.2:c.5758+2T>A	XP_016865741.1:n.5758+2T>A