Canonical Allele Identifier: CA82663900
Gene: COL6A5 HGNC NCBI

Linked Data

dbSNP Id: rs1542829
gnomAD v2: 3-130137471-G-A
gnomAD v3: 3-130418627-G-A
gnomAD v4: 3-130418627-G-A
MyVariant Identifiers: chr3:g.130137471G>A (hg19) chr3:g.130418627G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.130418627G>A , CM000665.2:g.130418627G>A GRCh38
NC_000003.11:g.130137471G>A , CM000665.1:g.130137471G>A GRCh37
NC_000003.10:g.131620161G>A NCBI36
NG_021424.1:g.78113G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373157.9:c.4888-242G>A MANE Select ENSP00000362250.5:n.4888-242G>A
ENST00000512836.6:c.4888-242G>A ENSP00000422898.2:n.4888-242G>A
ENST00000265379.10:c.4888-242G>A ENSP00000265379.7:n.4888-242G>A
ENST00000312481.11:c.4888-242G>A ENSP00000309762.7:n.4888-242G>A
NM_001278298.1:c.4888-242G>A NP_001265227.1:n.4888-242G>A
NM_153264.6:c.4888-242G>A NP_694996.5:n.4888-242G>A
NR_022012.2:n.5382-242G>A
XM_011512621.1:c.4825-242G>A XP_011510923.1:n.4825-242G>A
XM_011512622.1:c.4888-242G>A XP_011510924.1:n.4888-242G>A
XM_011512623.1:c.4888-242G>A XP_011510925.1:n.4888-242G>A
XM_011512621.2:c.4825-242G>A XP_011510923.1:n.4825-242G>A
XM_011512622.2:c.4888-242G>A XP_011510924.1:n.4888-242G>A
XM_011512623.2:c.4888-242G>A XP_011510925.1:n.4888-242G>A
NM_001278298.2:c.4888-242G>A MANE Select NP_001265227.1:n.4888-242G>A
NM_153264.7:c.4888-242G>A NP_694996.5:n.4888-242G>A
NR_022012.3:n.5226-242G>A
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