Canonical Allele Identifier: CA364741438

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75106497C>A , CM000668.2:g.75106497C>A	GRCh38
NC_000006.11:g.75816213C>A , CM000668.1:g.75816213C>A	GRCh37
NC_000006.10:g.75872933C>A	NCBI36
NG_042181.1:g.104411G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8101-1G>T MANE Select	NP_004361.3:n.8101-1G>T
ENST00000322507.13:c.8101-1G>T MANE Select	ENSP00000325146.8:n.8101-1G>T
NM_004370.5:c.8101-1G>T	NP_004361.3:n.8101-1G>T
NM_080645.2:c.4609-1G>T	NP_542376.2:n.4609-1G>T
NM_080645.3:c.4609-1G>T	NP_542376.2:n.4609-1G>T
ENST00000322507.12:c.8101-1G>T	ENSP00000325146.8:n.8101-1G>T
ENST00000345356.10:c.4609-1G>T	ENSP00000305147.9:n.4609-1G>T
ENST00000416123.6:c.7951-1205G>T	ENSP00000412864.2:n.7951-1205G>T
ENST00000425443.6:c.1015-1G>T	ENSP00000399812.2:n.1015-1G>T
ENST00000483888.6:c.8101-1G>T	ENSP00000421216.1:n.8101-1G>T
ENST00000615798.4:c.4534-1G>T	ENSP00000483232.1:n.4534-1G>T
XM_011535434.1:c.8101-1G>T	XP_011533736.1:n.8101-1G>T
XM_011535435.1:c.7828-1G>T	XP_011533737.1:n.7828-1G>T
XM_011535436.1:c.4609-1G>T	XP_011533738.1:n.4609-1G>T
XM_011535436.2:c.4609-1G>T	XP_011533738.1:n.4609-1G>T
XM_017010252.2:c.8065-1G>T	XP_016865741.1:n.8065-1G>T