Canonical Allele Identifier: CA2611145
Gene: COL6A5 HGNC NCBI

Linked Data

dbSNP Id: rs4688761
ExAC: 3:130124989 C / T
gnomAD v2: 3-130124989-C-T
gnomAD v3: 3-130406145-C-T
gnomAD v4: 3-130406145-C-T
MyVariant Identifiers: chr3:g.130124989C>T (hg19) chr3:g.130406145C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.130406145C>T , CM000665.2:g.130406145C>T GRCh38
NC_000003.11:g.130124989C>T , CM000665.1:g.130124989C>T GRCh37
NC_000003.10:g.131607679C>T NCBI36
NG_021424.1:g.65631C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373157.9:c.4395C>T MANE Select ENSP00000362250.5:p.Asp1465=
ENST00000512836.6:c.4395C>T ENSP00000422898.2:p.Asp1465=
ENST00000265379.10:c.4395C>T ENSP00000265379.7:p.Asp1465=
ENST00000312481.11:c.4395C>T ENSP00000309762.7:p.Asp1465=
NM_001278298.1:c.4395C>T NP_001265227.1:p.Asp1465=
NM_153264.6:c.4395C>T NP_694996.5:p.Asp1465=
NR_022012.2:n.4889C>T
XM_011512621.1:c.4395C>T XP_011510923.1:p.Asp1465=
XM_011512622.1:c.4395C>T XP_011510924.1:p.Asp1465=
XM_011512623.1:c.4395C>T XP_011510925.1:p.Asp1465=
XM_011512621.2:c.4395C>T XP_011510923.1:p.Asp1465=
XM_011512622.2:c.4395C>T XP_011510924.1:p.Asp1465=
XM_011512623.2:c.4395C>T XP_011510925.1:p.Asp1465=
NM_001278298.2:c.4395C>T MANE Select NP_001265227.1:p.Asp1465=
NM_153264.7:c.4395C>T NP_694996.5:p.Asp1465=
NR_022012.3:n.4733C>T
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