Canonical Allele Identifier: CA2654959090
Gene: COL6A1 HGNC NCBI

Linked Data

gnomAD v4: 21-46001197-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46001197G>T , CM000683.2:g.46001197G>T GRCh38
NC_000021.8:g.47421111G>T , CM000683.1:g.47421111G>T GRCh37
NC_000021.7:g.46245539G>T NCBI36
NG_008674.1:g.24449G>T , LRG_475:g.24449G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000463060.6:n.221+46G>T
ENST00000361866.8:c.1823-56G>T MANE Select ENSP00000355180.3:n.1823-56G>T
ENST00000361866.7:c.1823-56G>T ENSP00000355180.3:n.1823-56G>T
ENST00000463060.5:n.221+46G>T
ENST00000498614.5:n.1G>T
ENST00000612273.1:c.1817-56G>T ENSP00000483630.1:n.1817-56G>T
NM_001848.2:c.1823-56G>T , LRG_475t1:c.1823-56G>T NP_001839.2:n.1823-56G>T
NM_001848.3:c.1823-56G>T MANE Select NP_001839.2:n.1823-56G>T
Search 100 bp 5'
Search 100 bp 3'