Canonical Allele Identifier: CA3892093

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75090194C>A , CM000668.2:g.75090194C>A	GRCh38
NC_000006.11:g.75799910C>A , CM000668.1:g.75799910C>A	GRCh37
NC_000006.10:g.75856630C>A	NCBI36
NG_042181.1:g.120714G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.8857G>T MANE Select	NP_004361.3:p.Ala2953Ser
ENST00000322507.13:c.8857G>T MANE Select	ENSP00000325146.8:p.Ala2953Ser
NM_004370.5:c.8857G>T	NP_004361.3:p.Ala2953Ser
NM_080645.2:c.5365G>T	NP_542376.2:p.Ala1789Ser
NM_080645.3:c.5365G>T	NP_542376.2:p.Ala1789Ser
ENST00000322507.12:c.8857G>T	ENSP00000325146.8:p.Ala2953Ser
ENST00000345356.10:c.5365G>T	ENSP00000305147.9:p.Ala1789Ser
ENST00000416123.6:c.8629G>T	ENSP00000412864.2:p.Ala2877Ser
ENST00000425443.6:c.1771G>T	ENSP00000399812.2:p.Ala591Ser
ENST00000483888.6:c.8845G>T	ENSP00000421216.1:p.Ala2949Ser
ENST00000511023.1:n.472G>T
ENST00000615798.4:c.5290G>T	ENSP00000483232.1:p.Ala1764Ser
ENST00000680981.1:n.266G>T
XM_011535434.1:c.8857G>T	XP_011533736.1:p.Ala2953Ser
XM_011535435.1:c.8584G>T	XP_011533737.1:p.Ala2862Ser
XM_011535436.1:c.5365G>T	XP_011533738.1:p.Ala1789Ser
XM_011535436.2:c.5365G>T	XP_011533738.1:p.Ala1789Ser
XM_017010252.2:c.8821G>T	XP_016865741.1:p.Ala2941Ser