Canonical Allele Identifier: CA410516067
Gene: COL6A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47404288C>G (hg19) chr21:g.45984374C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984374C>G , CM000683.2:g.45984374C>G GRCh38
NC_000021.8:g.47404288C>G , CM000683.1:g.47404288C>G GRCh37
NC_000021.7:g.46228716C>G NCBI36
NG_008674.1:g.7626C>G , LRG_475:g.7626C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.333C>G MANE Select ENSP00000355180.3:p.Asp111Glu
ENST00000361866.7:c.333C>G ENSP00000355180.3:p.Asp111Glu
ENST00000612273.1:c.333C>G ENSP00000483630.1:p.Asp111Glu
NM_001848.2:c.333C>G , LRG_475t1:c.333C>G NP_001839.2:p.Asp111Glu
NM_001848.3:c.333C>G MANE Select NP_001839.2:p.Asp111Glu
Search 100 bp 5'
Search 100 bp 3'