Canonical Allele Identifier: CA394880627
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16163051T>C , CM000678.2:g.16163051T>C GRCh38
NC_000016.9:g.16256908T>C , CM000678.1:g.16256908T>C GRCh37
NC_000016.8:g.16164409T>C NCBI36
NG_007558.2:g.65421A>G
NG_007558.3:g.65567A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3448A>G ENSP00000483331.2:p.Asn1150Asp
ENST00000205557.12:c.3448A>G MANE Select ENSP00000205557.7:p.Asn1150Asp
ENST00000640696.1:c.321-1487A>G ENSP00000492197.1:n.321-1487A>G
ENST00000205557.11:c.3448A>G ENSP00000205557.7:p.Asn1150Asp
ENST00000456970.6:c.3132-1487A>G ENSP00000405002.2:n.3132-1487A>G
ENST00000622290.4:c.*657A>G ENSP00000483331.1:n.*657A>G
NM_001171.5:c.3448A>G NP_001162.4:p.Asn1150Asp
XM_011522479.1:c.3415A>G XP_011520781.1:p.Asn1139Asp
XM_011522480.1:c.3106A>G XP_011520782.1:p.Asn1036Asp
XM_011522481.1:c.3106A>G XP_011520783.1:p.Asn1036Asp
XR_932836.1:n.3683A>G
XR_932837.1:n.3543-1487A>G
XR_932838.1:n.3543-1487A>G
XR_933133.1:n.407+208T>C
XR_933134.1:n.754+208T>C
NM_001351800.1:c.3106A>G NP_001338729.1:p.Asn1036Asp
NR_147784.1:n.3169-1487A>G
XM_011522479.2:c.3415A>G XP_011520781.1:p.Asn1139Asp
XM_011522481.3:c.3106A>G XP_011520783.1:p.Asn1036Asp
XM_017023212.1:c.3280A>G XP_016878701.1:p.Asn1094Asp
XM_017023214.1:c.3307-1487A>G XP_016878703.1:n.3307-1487A>G
XM_024450261.1:c.3484A>G XP_024306029.1:p.Asn1162Asp
XR_932836.2:n.3629A>G
XR_932837.3:n.3488-1487A>G
XR_932838.3:n.3488-1487A>G
NM_001171.6:c.3448A>G MANE Select NP_001162.5:p.Asn1150Asp