Canonical Allele Identifier: CA16621843
Gene: COL12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425389
ClinVar RCV Id: RCV000488054
dbSNP Id: rs1064797326

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75117381C>T , CM000668.2:g.75117381C>T GRCh38
NC_000006.11:g.75827097C>T , CM000668.1:g.75827097C>T GRCh37
NC_000006.10:g.75883817C>T NCBI36
NG_042181.1:g.93527G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322507.13:c.7519+1G>A MANE Select ENSP00000325146.8:n.7519+1G>A
ENST00000322507.12:c.7519+1G>A ENSP00000325146.8:n.7519+1G>A
ENST00000345356.10:c.4027+1G>A ENSP00000305147.9:n.4027+1G>A
ENST00000416123.6:c.7519+1G>A ENSP00000412864.2:n.7519+1G>A
ENST00000425443.6:c.433+1G>A ENSP00000399812.2:n.433+1G>A
ENST00000483888.6:c.7519+1G>A ENSP00000421216.1:n.7519+1G>A
ENST00000493109.2:c.181+1G>A ENSP00000423423.1:n.181+1G>A
ENST00000615798.4:c.3952+1G>A ENSP00000483232.1:n.3952+1G>A
NM_004370.5:c.7519+1G>A NP_004361.3:n.7519+1G>A
NM_080645.2:c.4027+1G>A NP_542376.2:n.4027+1G>A
XM_011535434.1:c.7519+1G>A XP_011533736.1:n.7519+1G>A
XM_011535435.1:c.7246+1G>A XP_011533737.1:n.7246+1G>A
XM_011535436.1:c.4027+1G>A XP_011533738.1:n.4027+1G>A
XM_011535436.2:c.4027+1G>A XP_011533738.1:n.4027+1G>A
XM_017010252.2:c.7483+1G>A XP_016865741.1:n.7483+1G>A
NM_004370.6:c.7519+1G>A MANE Select NP_004361.3:n.7519+1G>A
NM_080645.3:c.4027+1G>A NP_542376.2:n.4027+1G>A