Canonical Allele Identifier: CA3892082

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75090124G>T , CM000668.2:g.75090124G>T	GRCh38
NC_000006.11:g.75799840G>T , CM000668.1:g.75799840G>T	GRCh37
NC_000006.10:g.75856560G>T	NCBI36
NG_042181.1:g.120784C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.8927C>A MANE Select	ENSP00000325146.8:p.Pro2976His
ENST00000680981.1:n.336C>A
ENST00000322507.12:c.8927C>A	ENSP00000325146.8:p.Pro2976His
ENST00000345356.10:c.5435C>A	ENSP00000305147.9:p.Pro1812His
ENST00000416123.6:c.8699C>A	ENSP00000412864.2:p.Pro2900His
ENST00000425443.6:c.1841C>A	ENSP00000399812.2:p.Pro614His
ENST00000483888.6:c.8915C>A	ENSP00000421216.1:p.Pro2972His
ENST00000511023.1:n.542C>A
ENST00000615798.4:c.5360C>A	ENSP00000483232.1:p.Pro1787His
NM_004370.5:c.8927C>A	NP_004361.3:p.Pro2976His
NM_080645.2:c.5435C>A	NP_542376.2:p.Pro1812His
XM_011535434.1:c.8927C>A	XP_011533736.1:p.Pro2976His
XM_011535435.1:c.8654C>A	XP_011533737.1:p.Pro2885His
XM_011535436.1:c.5435C>A	XP_011533738.1:p.Pro1812His
XM_011535436.2:c.5435C>A	XP_011533738.1:p.Pro1812His
XM_017010252.2:c.8891C>A	XP_016865741.1:p.Pro2964His
NM_004370.6:c.8927C>A MANE Select	NP_004361.3:p.Pro2976His
NM_080645.3:c.5435C>A	NP_542376.2:p.Pro1812His