Canonical Allele Identifier: CA2210140077
Community Standard Title: NM_001171.6(ABCC6):c.3145T= (p.Ser1049=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16165784A= , CM000678.2:g.16165784A= GRCh38
NC_000016.9:g.16259641A= , CM000678.1:g.16259641A= GRCh37
NC_000016.8:g.16167142A= NCBI36
NG_007558.2:g.62688T=
NG_007558.3:g.62834T=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.3145T= MANE Select NP_001162.5:p.Ser1049=
ENST00000205557.12:c.3145T= MANE Select ENSP00000205557.7:p.Ser1049=
NM_001171.5:c.3145T= NP_001162.4:p.Ser1049=
NM_001351800.1:c.2803T= NP_001338729.1:p.Ser935=
NR_147784.1:n.3007T=
ENST00000205557.11:c.3145T= ENSP00000205557.7:p.Ser1049=
ENST00000456970.6:c.2970T= ENSP00000405002.2:n.2970T=
ENST00000622290.4:c.*354T= ENSP00000483331.1:n.*354T=
ENST00000622290.5:c.3145T= ENSP00000483331.2:p.Ser1049=
ENST00000640696.1:c.160T= ENSP00000492197.1:p.Ser54=
XM_011522479.1:c.3112T= XP_011520781.1:p.Ser1038=
XM_011522479.2:c.3112T= XP_011520781.1:p.Ser1038=
XM_011522480.1:c.2803T= XP_011520782.1:p.Ser935=
XM_011522481.1:c.2803T= XP_011520783.1:p.Ser935=
XM_011522481.3:c.2803T= XP_011520783.1:p.Ser935=
XM_017023212.1:c.2977T= XP_016878701.1:p.Ser993=
XM_017023214.1:c.3145T= XP_016878703.1:p.Ser1049=
XM_024450261.1:c.3181T= XP_024306029.1:p.Ser1061=
XR_932836.1:n.3380T=
XR_932836.2:n.3326T=
XR_932837.1:n.3381T=
XR_932837.3:n.3326T=
XR_932838.1:n.3381T=
XR_932838.3:n.3326T=