Canonical Allele Identifier: CA7925599
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433311
dbSNP Id: rs63750987

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16163137G>A , CM000678.2:g.16163137G>A GRCh38
NC_000016.9:g.16256994G>A , CM000678.1:g.16256994G>A GRCh37
NC_000016.8:g.16164495G>A NCBI36
NG_007558.2:g.65335C>T
NG_007558.3:g.65481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3362C>T ENSP00000483331.2:p.Ser1121Leu
ENST00000205557.12:c.3362C>T MANE Select ENSP00000205557.7:p.Ser1121Leu
ENST00000640696.1:c.321-1573C>T ENSP00000492197.1:n.321-1573C>T
ENST00000205557.11:c.3362C>T ENSP00000205557.7:p.Ser1121Leu
ENST00000456970.6:c.3132-1573C>T ENSP00000405002.2:n.3132-1573C>T
ENST00000622290.4:c.*571C>T ENSP00000483331.1:n.*571C>T
NM_001171.5:c.3362C>T NP_001162.4:p.Ser1121Leu
XM_011522479.1:c.3329C>T XP_011520781.1:p.Ser1110Leu
XM_011522480.1:c.3020C>T XP_011520782.1:p.Ser1007Leu
XM_011522481.1:c.3020C>T XP_011520783.1:p.Ser1007Leu
XR_932836.1:n.3597C>T
XR_932837.1:n.3543-1573C>T
XR_932838.1:n.3543-1573C>T
XR_933133.1:n.407+294G>A
XR_933134.1:n.754+294G>A
NM_001351800.1:c.3020C>T NP_001338729.1:p.Ser1007Leu
NR_147784.1:n.3169-1573C>T
XM_011522479.2:c.3329C>T XP_011520781.1:p.Ser1110Leu
XM_011522481.3:c.3020C>T XP_011520783.1:p.Ser1007Leu
XM_017023212.1:c.3194C>T XP_016878701.1:p.Ser1065Leu
XM_017023214.1:c.3307-1573C>T XP_016878703.1:n.3307-1573C>T
XM_024450261.1:c.3398C>T XP_024306029.1:p.Ser1133Leu
XR_932836.2:n.3543C>T
XR_932837.3:n.3488-1573C>T
XR_932838.3:n.3488-1573C>T
NM_001171.6:c.3362C>T MANE Select NP_001162.5:p.Ser1121Leu