Canonical Allele Identifier: CA2577628430
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-45989001-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45989001C>A , CM000683.2:g.45989001C>A GRCh38
NC_000021.8:g.47408915C>A , CM000683.1:g.47408915C>A GRCh37
NC_000021.7:g.46233343C>A NCBI36
NG_008674.1:g.12253C>A , LRG_475:g.12253C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.805-83C>A MANE Select ENSP00000355180.3:n.805-83C>A
ENST00000361866.7:c.805-83C>A ENSP00000355180.3:n.805-83C>A
ENST00000612273.1:c.805-83C>A ENSP00000483630.1:n.805-83C>A
NM_001848.2:c.805-83C>A , LRG_475t1:c.805-83C>A NP_001839.2:n.805-83C>A
NM_001848.3:c.805-83C>A MANE Select NP_001839.2:n.805-83C>A
Search 100 bp 5'
Search 100 bp 3'