Canonical Allele Identifier: CA749831839
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs1197423165
gnomAD v4: 21-45990686-G-A
MyVariant Identifiers: chr21:g.47410600G>A (hg19) chr21:g.45990686G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45990686G>A , CM000683.2:g.45990686G>A GRCh38
NC_000021.8:g.47410600G>A , CM000683.1:g.47410600G>A GRCh37
NC_000021.7:g.46235028G>A NCBI36
NG_008674.1:g.13938G>A , LRG_475:g.13938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.1003-87G>A MANE Select ENSP00000355180.3:n.1003-87G>A
ENST00000361866.7:c.1003-87G>A ENSP00000355180.3:n.1003-87G>A
ENST00000612273.1:c.1003-87G>A ENSP00000483630.1:n.1003-87G>A
NM_001848.2:c.1003-87G>A , LRG_475t1:c.1003-87G>A NP_001839.2:n.1003-87G>A
NM_001848.3:c.1003-87G>A MANE Select NP_001839.2:n.1003-87G>A
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