Canonical Allele Identifier: CA3894321
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75188525A>C
GRCh37 chr6:g.75898241A>C
gnomAD v2:
6:75898241 A / C
gnomAD v3:
6:75188525 A / C
gnomAD v4:
chr6-75188525-A-C
Joint Max Group AF 0.04568187 (AFR)
Genomes Max Group AF 0.0448119 (AFR)
Exomes Max Group AF 0.045575 (AFR)
ClinVar Allele:
252529
ClinVar RCV:
RCV000243621
RCV000529878
RCV001689846
ClinVar Variation:
259352
dbSNP:
16886258
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75188525A>C , CM000668.2:g.75188525A>C GRCh38
NC_000006.11:g.75898241A>C , CM000668.1:g.75898241A>C GRCh37
NC_000006.10:g.75954961A>C NCBI36
NG_042181.1:g.22383T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.834T>G MANE Select ENSP00000325146.8:p.Ala278=
ENST00000322507.12:c.834T>G ENSP00000325146.8:p.Ala278=
ENST00000345356.10:c.73+14195T>G ENSP00000305147.9:n.73+14195T>G
ENST00000416123.6:c.834T>G ENSP00000412864.2:p.Ala278=
ENST00000483888.6:c.834T>G ENSP00000421216.1:p.Ala278=
ENST00000615798.4:c.-2734T>G ENSP00000483232.1:n.-2734T>G
NM_004370.5:c.834T>G NP_004361.3:p.Ala278=
NM_080645.2:c.73+14195T>G NP_542376.2:n.73+14195T>G
XM_011535434.1:c.834T>G XP_011533736.1:p.Ala278=
XM_011535435.1:c.834T>G XP_011533737.1:p.Ala278=
XM_011535436.1:c.73+14195T>G XP_011533738.1:n.73+14195T>G
XM_011535436.2:c.73+14195T>G XP_011533738.1:n.73+14195T>G
XM_017010252.2:c.798T>G XP_016865741.1:p.Ala266=
NM_004370.6:c.834T>G MANE Select NP_004361.3:p.Ala278=
NM_080645.3:c.73+14195T>G NP_542376.2:n.73+14195T>G
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