Canonical Allele Identifier: CA16618308

Gene: COL12A1

Linked Data

• ClinVar Variation Id: 420815
• ClinVar RCV Id: RCV000485523 ; RCV001856849
• dbSNP Id: rs1064794720
• gnomAD v2: 6-75875218-C-T
• gnomAD v3: 6-75165502-C-T
• gnomAD v4: 6-75165502-C-T
• MyVariant Identifiers: chr6:g.75875218C>T (hg19) ; chr6:g.75165502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.75165502C>T , CM000668.2:g.75165502C>T	GRCh38
NC_000006.11:g.75875218C>T , CM000668.1:g.75875218C>T	GRCh37
NC_000006.10:g.75931938C>T	NCBI36
NG_042181.1:g.45406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322507.13:c.2983+5G>A MANE Select	ENSP00000325146.8:n.2983+5G>A
ENST00000322507.12:c.2983+5G>A	ENSP00000325146.8:n.2983+5G>A
ENST00000345356.10:c.74-13020G>A	ENSP00000305147.9:n.74-13020G>A
ENST00000416123.6:c.2983+5G>A	ENSP00000412864.2:n.2983+5G>A
ENST00000483888.6:c.2983+5G>A	ENSP00000421216.1:n.2983+5G>A
ENST00000615798.4:c.-585+5G>A	ENSP00000483232.1:n.-585+5G>A
NM_004370.5:c.2983+5G>A	NP_004361.3:n.2983+5G>A
NM_080645.2:c.74-13020G>A	NP_542376.2:n.74-13020G>A
XM_011535434.1:c.2983+5G>A	XP_011533736.1:n.2983+5G>A
XM_011535435.1:c.2710+5G>A	XP_011533737.1:n.2710+5G>A
XM_011535436.1:c.74-13020G>A	XP_011533738.1:n.74-13020G>A
XM_011535436.2:c.74-13020G>A	XP_011533738.1:n.74-13020G>A
XM_017010252.2:c.2947+5G>A	XP_016865741.1:n.2947+5G>A
NM_004370.6:c.2983+5G>A MANE Select	NP_004361.3:n.2983+5G>A
NM_080645.3:c.74-13020G>A	NP_542376.2:n.74-13020G>A