Canonical Allele Identifier: CA1401624805
Gene: COL6A5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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