Canonical Allele Identifier: CA10603503
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280099
ClinVar RCV Id: RCV000387642
dbSNP Id: rs886041383
MyVariant Identifiers: chr21:g.47409035G>A (hg19) chr21:g.45989121G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45989121G>A , CM000683.2:g.45989121G>A GRCh38
NC_000021.8:g.47409035G>A , CM000683.1:g.47409035G>A GRCh37
NC_000021.7:g.46233463G>A NCBI36
NG_008674.1:g.12373G>A , LRG_475:g.12373G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.842G>A MANE Select ENSP00000355180.3:p.Gly281Glu
ENST00000361866.7:c.842G>A ENSP00000355180.3:p.Gly281Glu
ENST00000612273.1:c.842G>A ENSP00000483630.1:p.Gly281Glu
NM_001848.2:c.842G>A , LRG_475t1:c.842G>A NP_001839.2:p.Gly281Glu
NM_001848.3:c.842G>A MANE Select NP_001839.2:p.Gly281Glu
Search 100 bp 5'
Search 100 bp 3'