Canonical Allele Identifier: CA2210129054
Community Standard Title: NM_001171.6(ABCC6):c.3871G= (p.Ala1291=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16157674C= , CM000678.2:g.16157674C= GRCh38
NC_000016.9:g.16251531C= , CM000678.1:g.16251531C= GRCh37
NC_000016.8:g.16159032C= NCBI36
NG_007558.2:g.70798G=
NG_007558.3:g.70944G=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.3871G= MANE Select NP_001162.5:p.Ala1291=
ENST00000205557.12:c.3871G= MANE Select ENSP00000205557.7:p.Ala1291=
NM_001171.5:c.3871G= NP_001162.4:p.Ala1291=
NM_001351800.1:c.3529G= NP_001338729.1:p.Ala1177=
NR_147784.1:n.3533G=
ENST00000205557.11:c.3871G= ENSP00000205557.7:p.Ala1291=
ENST00000456970.6:c.3496G= ENSP00000405002.2:n.3496G=
ENST00000622290.4:c.*1080G= ENSP00000483331.1:n.*1080G=
ENST00000622290.5:c.3871G= ENSP00000483331.2:p.Ala1291=
ENST00000640696.1:c.685G= ENSP00000492197.1:p.Ala229=
XM_011522479.1:c.3838G= XP_011520781.1:p.Ala1280=
XM_011522479.2:c.3838G= XP_011520781.1:p.Ala1280=
XM_011522480.1:c.3529G= XP_011520782.1:p.Ala1177=
XM_011522481.1:c.3529G= XP_011520783.1:p.Ala1177=
XM_011522481.3:c.3529G= XP_011520783.1:p.Ala1177=
XM_017023212.1:c.3703G= XP_016878701.1:p.Ala1235=
XM_024450261.1:c.3907G= XP_024306029.1:p.Ala1303=
XR_932836.1:n.4106G=
XR_932836.2:n.4052G=
XR_932837.1:n.3907G=
XR_932837.3:n.3852G=
XR_932838.1:n.3907G=
XR_932838.3:n.3852G=
XR_933134.1:n.539-2107C=