Canonical Allele Identifier: CA394884877
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169785G>T , CM000678.2:g.16169785G>T GRCh38
NC_000016.9:g.16263642G>T , CM000678.1:g.16263642G>T GRCh37
NC_000016.8:g.16171143G>T NCBI36
NG_007558.2:g.58687C>A
NG_007558.3:g.58833C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2856C>A ENSP00000483331.2:p.Phe952Leu
ENST00000205557.12:c.2856C>A MANE Select ENSP00000205557.7:p.Phe952Leu
ENST00000205557.11:c.2856C>A ENSP00000205557.7:p.Phe952Leu
ENST00000456970.6:c.2681C>A ENSP00000405002.2:n.2681C>A
ENST00000622290.4:c.*65C>A ENSP00000483331.1:n.*65C>A
NM_001171.5:c.2856C>A NP_001162.4:p.Phe952Leu
XM_011522479.1:c.2823C>A XP_011520781.1:p.Phe941Leu
XM_011522480.1:c.2514C>A XP_011520782.1:p.Phe838Leu
XM_011522481.1:c.2514C>A XP_011520783.1:p.Phe838Leu
XR_932836.1:n.3091C>A
XR_932837.1:n.3092C>A
XR_932838.1:n.3092C>A
NM_001351800.1:c.2514C>A NP_001338729.1:p.Phe838Leu
NR_147784.1:n.2718C>A
XM_011522479.2:c.2823C>A XP_011520781.1:p.Phe941Leu
XM_011522481.3:c.2514C>A XP_011520783.1:p.Phe838Leu
XM_017023212.1:c.2688C>A XP_016878701.1:p.Phe896Leu
XM_017023214.1:c.2856C>A XP_016878703.1:p.Phe952Leu
XM_024450261.1:c.2892C>A XP_024306029.1:p.Phe964Leu
XR_932836.2:n.3037C>A
XR_932837.3:n.3037C>A
XR_932838.3:n.3037C>A
NM_001171.6:c.2856C>A MANE Select NP_001162.5:p.Phe952Leu