Canonical Allele Identifier: CA2654956219
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-45984188-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984188T>A , CM000683.2:g.45984188T>A GRCh38
NC_000021.8:g.47404102T>A , CM000683.1:g.47404102T>A GRCh37
NC_000021.7:g.46228530T>A NCBI36
NG_008674.1:g.7440T>A , LRG_475:g.7440T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.228-81T>A MANE Select ENSP00000355180.3:n.228-81T>A
ENST00000361866.7:c.228-81T>A ENSP00000355180.3:n.228-81T>A
ENST00000612273.1:c.228-81T>A ENSP00000483630.1:n.228-81T>A
NM_001848.2:c.228-81T>A , LRG_475t1:c.228-81T>A NP_001839.2:n.228-81T>A
NM_001848.3:c.228-81T>A MANE Select NP_001839.2:n.228-81T>A
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