Canonical Allele Identifier: CA3894237

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75183884C>G , CM000668.2:g.75183884C>G	GRCh38
NC_000006.11:g.75893600C>G , CM000668.1:g.75893600C>G	GRCh37
NC_000006.10:g.75950320C>G	NCBI36
NG_042181.1:g.27024G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.1258G>C MANE Select	NP_004361.3:p.Glu420Gln
ENST00000322507.13:c.1258G>C MANE Select	ENSP00000325146.8:p.Glu420Gln
NM_004370.5:c.1258G>C	NP_004361.3:p.Glu420Gln
NM_080645.2:c.73+18836G>C	NP_542376.2:n.73+18836G>C
NM_080645.3:c.73+18836G>C	NP_542376.2:n.73+18836G>C
ENST00000322507.12:c.1258G>C	ENSP00000325146.8:p.Glu420Gln
ENST00000345356.10:c.73+18836G>C	ENSP00000305147.9:n.73+18836G>C
ENST00000416123.6:c.1258G>C	ENSP00000412864.2:p.Glu420Gln
ENST00000483888.6:c.1258G>C	ENSP00000421216.1:p.Glu420Gln
ENST00000486533.1:n.364G>C
ENST00000615798.4:c.-2310G>C	ENSP00000483232.1:n.-2310G>C
XM_011535434.1:c.1258G>C	XP_011533736.1:p.Glu420Gln
XM_011535435.1:c.1258G>C	XP_011533737.1:p.Glu420Gln
XM_011535436.1:c.73+18836G>C	XP_011533738.1:n.73+18836G>C
XM_011535436.2:c.73+18836G>C	XP_011533738.1:n.73+18836G>C
XM_017010252.2:c.1222G>C	XP_016865741.1:p.Glu408Gln