Canonical Allele Identifier: CA512718607
Gene: COL6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47421213A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001299A>C , CM000683.2:g.46001299A>C GRCh38
NC_000021.8:g.47421213A>C , CM000683.1:g.47421213A>C GRCh37
NC_000021.7:g.46245641A>C NCBI36
NG_008674.1:g.24551A>C , LRG_475:g.24551A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463060.6:n.268A>C
ENST00000361866.8:c.1869A>C MANE Select ENSP00000355180.3:p.Ser623=
ENST00000361866.7:c.1869A>C ENSP00000355180.3:p.Ser623=
ENST00000463060.5:n.268A>C
ENST00000498614.5:n.103A>C
ENST00000612273.1:c.1863A>C ENSP00000483630.1:p.Ser621=
NM_001848.2:c.1869A>C , LRG_475t1:c.1869A>C NP_001839.2:p.Ser623=
NM_001848.3:c.1869A>C MANE Select NP_001839.2:p.Ser623=
Search 100 bp 5'
Search 100 bp 3'