Canonical Allele Identifier: CA3893706

Gene: COL12A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75154515T>G , CM000668.2:g.75154515T>G	GRCh38
NC_000006.11:g.75864231T>G , CM000668.1:g.75864231T>G	GRCh37
NC_000006.10:g.75920951T>G	NCBI36
NG_042181.1:g.56393A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004370.6:c.3466A>C MANE Select	NP_004361.3:p.Asn1156His
ENST00000322507.13:c.3466A>C MANE Select	ENSP00000325146.8:p.Asn1156His
NM_004370.5:c.3466A>C	NP_004361.3:p.Asn1156His
NM_080645.2:c.74-2033A>C	NP_542376.2:n.74-2033A>C
NM_080645.3:c.74-2033A>C	NP_542376.2:n.74-2033A>C
ENST00000322507.12:c.3466A>C	ENSP00000325146.8:p.Asn1156His
ENST00000345356.10:c.74-2033A>C	ENSP00000305147.9:n.74-2033A>C
ENST00000416123.6:c.3466A>C	ENSP00000412864.2:p.Asn1156His
ENST00000483888.6:c.3466A>C	ENSP00000421216.1:p.Asn1156His
ENST00000615798.4:c.-102A>C	ENSP00000483232.1:n.-102A>C
XM_011535434.1:c.3466A>C	XP_011533736.1:p.Asn1156His
XM_011535435.1:c.3193A>C	XP_011533737.1:p.Asn1065His
XM_011535436.1:c.74-2033A>C	XP_011533738.1:n.74-2033A>C
XM_011535436.2:c.74-2033A>C	XP_011533738.1:n.74-2033A>C
XM_017010252.2:c.3430A>C	XP_016865741.1:p.Asn1144His