Canonical Allele Identifier: CA410515836
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1519242
ClinVar RCV Id: RCV002024462
dbSNP Id: rs766517983
MyVariant Identifiers: chr21:g.47404224C>G (hg19) chr21:g.45984310C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984310C>G , CM000683.2:g.45984310C>G GRCh38
NC_000021.8:g.47404224C>G , CM000683.1:g.47404224C>G GRCh37
NC_000021.7:g.46228652C>G NCBI36
NG_008674.1:g.7562C>G , LRG_475:g.7562C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.269C>G MANE Select ENSP00000355180.3:p.Ala90Gly
ENST00000361866.7:c.269C>G ENSP00000355180.3:p.Ala90Gly
ENST00000612273.1:c.269C>G ENSP00000483630.1:p.Ala90Gly
NM_001848.2:c.269C>G , LRG_475t1:c.269C>G NP_001839.2:p.Ala90Gly
NM_001848.3:c.269C>G MANE Select NP_001839.2:p.Ala90Gly
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