Canonical Allele Identifier: CA394884619
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169738A>T , CM000678.2:g.16169738A>T GRCh38
NC_000016.9:g.16263595A>T , CM000678.1:g.16263595A>T GRCh37
NC_000016.8:g.16171096A>T NCBI36
NG_007558.2:g.58734T>A
NG_007558.3:g.58880T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2903T>A ENSP00000483331.2:p.Leu968Gln
ENST00000205557.12:c.2903T>A MANE Select ENSP00000205557.7:p.Leu968Gln
ENST00000205557.11:c.2903T>A ENSP00000205557.7:p.Leu968Gln
ENST00000456970.6:c.2728T>A ENSP00000405002.2:n.2728T>A
ENST00000622290.4:c.*112T>A ENSP00000483331.1:n.*112T>A
NM_001171.5:c.2903T>A NP_001162.4:p.Leu968Gln
XM_011522479.1:c.2870T>A XP_011520781.1:p.Leu957Gln
XM_011522480.1:c.2561T>A XP_011520782.1:p.Leu854Gln
XM_011522481.1:c.2561T>A XP_011520783.1:p.Leu854Gln
XR_932836.1:n.3138T>A
XR_932837.1:n.3139T>A
XR_932838.1:n.3139T>A
NM_001351800.1:c.2561T>A NP_001338729.1:p.Leu854Gln
NR_147784.1:n.2765T>A
XM_011522479.2:c.2870T>A XP_011520781.1:p.Leu957Gln
XM_011522481.3:c.2561T>A XP_011520783.1:p.Leu854Gln
XM_017023212.1:c.2735T>A XP_016878701.1:p.Leu912Gln
XM_017023214.1:c.2903T>A XP_016878703.1:p.Leu968Gln
XM_024450261.1:c.2939T>A XP_024306029.1:p.Leu980Gln
XR_932836.2:n.3084T>A
XR_932837.3:n.3084T>A
XR_932838.3:n.3084T>A
NM_001171.6:c.2903T>A MANE Select NP_001162.5:p.Leu968Gln