Canonical Allele Identifier: CA410516202
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs2077725785
gnomAD v3: 21-45984406-A-C
gnomAD v4: 21-45984406-A-C
MyVariant Identifiers: chr21:g.47404320A>C (hg19) chr21:g.45984406A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984406A>C , CM000683.2:g.45984406A>C GRCh38
NC_000021.8:g.47404320A>C , CM000683.1:g.47404320A>C GRCh37
NC_000021.7:g.46228748A>C NCBI36
NG_008674.1:g.7658A>C , LRG_475:g.7658A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.365A>C MANE Select ENSP00000355180.3:p.Tyr122Ser
ENST00000361866.7:c.365A>C ENSP00000355180.3:p.Tyr122Ser
ENST00000612273.1:c.365A>C ENSP00000483630.1:p.Tyr122Ser
NM_001848.2:c.365A>C , LRG_475t1:c.365A>C NP_001839.2:p.Tyr122Ser
NM_001848.3:c.365A>C MANE Select NP_001839.2:p.Tyr122Ser
Search 100 bp 5'
Search 100 bp 3'