Canonical Allele Identifier: CA3892904

Gene: COL12A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75130247A>T , CM000668.2:g.75130247A>T	GRCh38
NC_000006.11:g.75839963A>T , CM000668.1:g.75839963A>T	GRCh37
NC_000006.10:g.75896683A>T	NCBI36
NG_042181.1:g.80661T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.6068-14T>A MANE Select	ENSP00000325146.8:n.6068-14T>A
ENST00000322507.12:c.6068-14T>A	ENSP00000325146.8:n.6068-14T>A
ENST00000345356.10:c.2576-14T>A	ENSP00000305147.9:n.2576-14T>A
ENST00000416123.6:c.6068-14T>A	ENSP00000412864.2:n.6068-14T>A
ENST00000483888.6:c.6068-14T>A	ENSP00000421216.1:n.6068-14T>A
ENST00000615798.4:c.2501-14T>A	ENSP00000483232.1:n.2501-14T>A
NM_004370.5:c.6068-14T>A	NP_004361.3:n.6068-14T>A
NM_080645.2:c.2576-14T>A	NP_542376.2:n.2576-14T>A
XM_011535434.1:c.6068-14T>A	XP_011533736.1:n.6068-14T>A
XM_011535435.1:c.5795-14T>A	XP_011533737.1:n.5795-14T>A
XM_011535436.1:c.2576-14T>A	XP_011533738.1:n.2576-14T>A
XM_011535436.2:c.2576-14T>A	XP_011533738.1:n.2576-14T>A
XM_017010252.2:c.6032-14T>A	XP_016865741.1:n.6032-14T>A
NM_004370.6:c.6068-14T>A MANE Select	NP_004361.3:n.6068-14T>A
NM_080645.3:c.2576-14T>A	NP_542376.2:n.2576-14T>A