Canonical Allele Identifier: CA141005484
Gene: COL12A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75102873G>C , CM000668.2:g.75102873G>C GRCh38
NC_000006.11:g.75812589G>C , CM000668.1:g.75812589G>C GRCh37
NC_000006.10:g.75869309G>C NCBI36
NG_042181.1:g.108035C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.8320-181C>G MANE Select ENSP00000325146.8:n.8320-181C>G
ENST00000322507.12:c.8320-181C>G ENSP00000325146.8:n.8320-181C>G
ENST00000345356.10:c.4828-181C>G ENSP00000305147.9:n.4828-181C>G
ENST00000416123.6:c.8092-181C>G ENSP00000412864.2:n.8092-181C>G
ENST00000425443.6:c.1234-181C>G ENSP00000399812.2:n.1234-181C>G
ENST00000483888.6:c.8320-181C>G ENSP00000421216.1:n.8320-181C>G
ENST00000615798.4:c.4753-181C>G ENSP00000483232.1:n.4753-181C>G
NM_004370.5:c.8320-181C>G NP_004361.3:n.8320-181C>G
NM_080645.2:c.4828-181C>G NP_542376.2:n.4828-181C>G
XM_011535434.1:c.8320-181C>G XP_011533736.1:n.8320-181C>G
XM_011535435.1:c.8047-181C>G XP_011533737.1:n.8047-181C>G
XM_011535436.1:c.4828-181C>G XP_011533738.1:n.4828-181C>G
XM_011535436.2:c.4828-181C>G XP_011533738.1:n.4828-181C>G
XM_017010252.2:c.8284-181C>G XP_016865741.1:n.8284-181C>G
NM_004370.6:c.8320-181C>G MANE Select NP_004361.3:n.8320-181C>G
NM_080645.3:c.4828-181C>G NP_542376.2:n.4828-181C>G