Canonical Allele Identifier: CA3893584

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75151924C>T , CM000668.2:g.75151924C>T	GRCh38
NC_000006.11:g.75861640C>T , CM000668.1:g.75861640C>T	GRCh37
NC_000006.10:g.75918360C>T	NCBI36
NG_042181.1:g.58984G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.3943G>A MANE Select	NP_004361.3:p.Asp1315Asn
ENST00000322507.13:c.3943G>A MANE Select	ENSP00000325146.8:p.Asp1315Asn
NM_004370.5:c.3943G>A	NP_004361.3:p.Asp1315Asn
NM_080645.2:c.451G>A	NP_542376.2:p.Asp151Asn
NM_080645.3:c.451G>A	NP_542376.2:p.Asp151Asn
ENST00000322507.12:c.3943G>A	ENSP00000325146.8:p.Asp1315Asn
ENST00000345356.10:c.451G>A	ENSP00000305147.9:p.Asp151Asn
ENST00000416123.6:c.3943G>A	ENSP00000412864.2:p.Asp1315Asn
ENST00000419671.1:c.167G>A
ENST00000483888.6:c.3943G>A	ENSP00000421216.1:p.Asp1315Asn
ENST00000615798.4:c.376G>A	ENSP00000483232.1:p.Asp126Asn
XM_011535434.1:c.3943G>A	XP_011533736.1:p.Asp1315Asn
XM_011535435.1:c.3670G>A	XP_011533737.1:p.Asp1224Asn
XM_011535436.1:c.451G>A	XP_011533738.1:p.Asp151Asn
XM_011535436.2:c.451G>A	XP_011533738.1:p.Asp151Asn
XM_017010252.2:c.3907G>A	XP_016865741.1:p.Asp1303Asn