Canonical Allele Identifier: CA2392433275
Gene: COL6A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45988998A= , CM000683.2:g.45988998A= GRCh38
NC_000021.8:g.47408912A= , CM000683.1:g.47408912A= GRCh37
NC_000021.7:g.46233340A= NCBI36
NG_008674.1:g.12250A= , LRG_475:g.12250A=

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.805-86A= MANE Select ENSP00000355180.3:n.805-86A=
ENST00000361866.7:c.805-86A= ENSP00000355180.3:n.805-86A=
ENST00000612273.1:c.805-86A= ENSP00000483630.1:n.805-86A=
NM_001848.2:c.805-86A= , LRG_475t1:c.805-86A= NP_001839.2:n.805-86A=
NM_001848.3:c.805-86A= MANE Select NP_001839.2:n.805-86A=
Search 100 bp 5'
Search 100 bp 3'