Canonical Allele Identifier: CA2210143291
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169770C= , CM000678.2:g.16169770C= GRCh38
NC_000016.9:g.16263627C= , CM000678.1:g.16263627C= GRCh37
NC_000016.8:g.16171128C= NCBI36
NG_007558.2:g.58702G=
NG_007558.3:g.58848G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2871G= ENSP00000483331.2:p.Gln957=
ENST00000205557.12:c.2871G= MANE Select ENSP00000205557.7:p.Gln957=
ENST00000205557.11:c.2871G= ENSP00000205557.7:p.Gln957=
ENST00000456970.6:c.2696G= ENSP00000405002.2:n.2696G=
ENST00000622290.4:c.*80G= ENSP00000483331.1:n.*80G=
NM_001171.5:c.2871G= NP_001162.4:p.Gln957=
XM_011522479.1:c.2838G= XP_011520781.1:p.Gln946=
XM_011522480.1:c.2529G= XP_011520782.1:p.Gln843=
XM_011522481.1:c.2529G= XP_011520783.1:p.Gln843=
XR_932836.1:n.3106G=
XR_932837.1:n.3107G=
XR_932838.1:n.3107G=
NM_001351800.1:c.2529G= NP_001338729.1:p.Gln843=
NR_147784.1:n.2733G=
XM_011522479.2:c.2838G= XP_011520781.1:p.Gln946=
XM_011522481.3:c.2529G= XP_011520783.1:p.Gln843=
XM_017023212.1:c.2703G= XP_016878701.1:p.Gln901=
XM_017023214.1:c.2871G= XP_016878703.1:p.Gln957=
XM_024450261.1:c.2907G= XP_024306029.1:p.Gln969=
XR_932836.2:n.3052G=
XR_932837.3:n.3052G=
XR_932838.3:n.3052G=
NM_001171.6:c.2871G= MANE Select NP_001162.5:p.Gln957=