Canonical Allele Identifier: CA3893401
Gene: COL12A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.75145403T>C
GRCh37 chr6:g.75855119T>C
Revel Score:
ENST00000322507 (MANE Select) 0.122
ENST00000432784 0.122
ENST00000345356 0.122
ENST00000416123 0.122
ENST00000483888 0.122
gnomAD v2:
6:75855119 T / C
gnomAD v3:
6:75145403 T / C
gnomAD v4:
chr6-75145403-T-C
Joint Max Group AF 0.00073254 (AFR)
Genomes Max Group AF 0.00051837 (AFR)
Exomes Max Group AF 0.00084927 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75145403T>C , CM000668.2:g.75145403T>C GRCh38
NC_000006.11:g.75855119T>C , CM000668.1:g.75855119T>C GRCh37
NC_000006.10:g.75911839T>C NCBI36
NG_042181.1:g.65505A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322507.13:c.4613A>G MANE Select ENSP00000325146.8:p.Asn1538Ser
ENST00000322507.12:c.4613A>G ENSP00000325146.8:p.Asn1538Ser
ENST00000345356.10:c.1121A>G ENSP00000305147.9:p.Asn374Ser
ENST00000416123.6:c.4613A>G ENSP00000412864.2:p.Asn1538Ser
ENST00000419671.1:c.837A>G
ENST00000474564.1:n.237A>G
ENST00000483888.6:c.4613A>G ENSP00000421216.1:p.Asn1538Ser
ENST00000615798.4:c.1046A>G ENSP00000483232.1:p.Asn349Ser
NM_004370.5:c.4613A>G NP_004361.3:p.Asn1538Ser
NM_080645.2:c.1121A>G NP_542376.2:p.Asn374Ser
XM_011535434.1:c.4613A>G XP_011533736.1:p.Asn1538Ser
XM_011535435.1:c.4340A>G XP_011533737.1:p.Asn1447Ser
XM_011535436.1:c.1121A>G XP_011533738.1:p.Asn374Ser
XM_011535436.2:c.1121A>G XP_011533738.1:p.Asn374Ser
XM_017010252.2:c.4577A>G XP_016865741.1:p.Asn1526Ser
NM_004370.6:c.4613A>G MANE Select NP_004361.3:p.Asn1538Ser
NM_080645.3:c.1121A>G NP_542376.2:p.Asn374Ser
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