Canonical Allele Identifier: CA364733245

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75132084T>G , CM000668.2:g.75132084T>G	GRCh38
NC_000006.11:g.75841800T>G , CM000668.1:g.75841800T>G	GRCh37
NC_000006.10:g.75898520T>G	NCBI36
NG_042181.1:g.78824A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.5795-2A>C MANE Select	NP_004361.3:n.5795-2A>C
ENST00000322507.13:c.5795-2A>C MANE Select	ENSP00000325146.8:n.5795-2A>C
NM_004370.5:c.5795-2A>C	NP_004361.3:n.5795-2A>C
NM_080645.2:c.2303-2A>C	NP_542376.2:n.2303-2A>C
NM_080645.3:c.2303-2A>C	NP_542376.2:n.2303-2A>C
ENST00000322507.12:c.5795-2A>C	ENSP00000325146.8:n.5795-2A>C
ENST00000345356.10:c.2303-2A>C	ENSP00000305147.9:n.2303-2A>C
ENST00000416123.6:c.5795-2A>C	ENSP00000412864.2:n.5795-2A>C
ENST00000483888.6:c.5795-2A>C	ENSP00000421216.1:n.5795-2A>C
ENST00000615798.4:c.2228-2A>C	ENSP00000483232.1:n.2228-2A>C
XM_011535434.1:c.5795-2A>C	XP_011533736.1:n.5795-2A>C
XM_011535435.1:c.5522-2A>C	XP_011533737.1:n.5522-2A>C
XM_011535436.1:c.2303-2A>C	XP_011533738.1:n.2303-2A>C
XM_011535436.2:c.2303-2A>C	XP_011533738.1:n.2303-2A>C
XM_017010252.2:c.5759-2A>C	XP_016865741.1:n.5759-2A>C