Canonical Allele Identifier: CA3892128

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75091301G>A , CM000668.2:g.75091301G>A	GRCh38
NC_000006.11:g.75801017G>A , CM000668.1:g.75801017G>A	GRCh37
NC_000006.10:g.75857737G>A	NCBI36
NG_042181.1:g.119607C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8752+22C>T MANE Select	NP_004361.3:n.8752+22C>T
ENST00000322507.13:c.8752+22C>T MANE Select	ENSP00000325146.8:n.8752+22C>T
NM_004370.5:c.8752+22C>T	NP_004361.3:n.8752+22C>T
NM_080645.2:c.5260+22C>T	NP_542376.2:n.5260+22C>T
NM_080645.3:c.5260+22C>T	NP_542376.2:n.5260+22C>T
ENST00000322507.12:c.8752+22C>T	ENSP00000325146.8:n.8752+22C>T
ENST00000345356.10:c.5260+22C>T	ENSP00000305147.9:n.5260+22C>T
ENST00000416123.6:c.8524+22C>T	ENSP00000412864.2:n.8524+22C>T
ENST00000425443.6:c.1666+22C>T	ENSP00000399812.2:n.1666+22C>T
ENST00000483888.6:c.8740+22C>T	ENSP00000421216.1:n.8740+22C>T
ENST00000511023.1:n.367+22C>T
ENST00000615798.4:c.5185+22C>T	ENSP00000483232.1:n.5185+22C>T
XM_011535434.1:c.8752+22C>T	XP_011533736.1:n.8752+22C>T
XM_011535435.1:c.8479+22C>T	XP_011533737.1:n.8479+22C>T
XM_011535436.1:c.5260+22C>T	XP_011533738.1:n.5260+22C>T
XM_011535436.2:c.5260+22C>T	XP_011533738.1:n.5260+22C>T
XM_017010252.2:c.8716+22C>T	XP_016865741.1:n.8716+22C>T