Canonical Allele Identifier: CA364747334

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75151278T>C , CM000668.2:g.75151278T>C	GRCh38
NC_000006.11:g.75860994T>C , CM000668.1:g.75860994T>C	GRCh37
NC_000006.10:g.75917714T>C	NCBI36
NG_042181.1:g.59630A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.4010A>G MANE Select	NP_004361.3:p.Asn1337Ser
ENST00000322507.13:c.4010A>G MANE Select	ENSP00000325146.8:p.Asn1337Ser
NM_004370.5:c.4010A>G	NP_004361.3:p.Asn1337Ser
NM_080645.2:c.518A>G	NP_542376.2:p.Asn173Ser
NM_080645.3:c.518A>G	NP_542376.2:p.Asn173Ser
ENST00000322507.12:c.4010A>G	ENSP00000325146.8:p.Asn1337Ser
ENST00000345356.10:c.518A>G	ENSP00000305147.9:p.Asn173Ser
ENST00000416123.6:c.4010A>G	ENSP00000412864.2:p.Asn1337Ser
ENST00000419671.1:c.234A>G
ENST00000483888.6:c.4010A>G	ENSP00000421216.1:p.Asn1337Ser
ENST00000615798.4:c.443A>G	ENSP00000483232.1:p.Asn148Ser
XM_011535434.1:c.4010A>G	XP_011533736.1:p.Asn1337Ser
XM_011535435.1:c.3737A>G	XP_011533737.1:p.Asn1246Ser
XM_011535436.1:c.518A>G	XP_011533738.1:p.Asn173Ser
XM_011535436.2:c.518A>G	XP_011533738.1:p.Asn173Ser
XM_017010252.2:c.3974A>G	XP_016865741.1:p.Asn1325Ser