Canonical Allele Identifier: CA394884691
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169753C>A , CM000678.2:g.16169753C>A GRCh38
NC_000016.9:g.16263610C>A , CM000678.1:g.16263610C>A GRCh37
NC_000016.8:g.16171111C>A NCBI36
NG_007558.2:g.58719G>T
NG_007558.3:g.58865G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2888G>T ENSP00000483331.2:p.Cys963Phe
ENST00000205557.12:c.2888G>T MANE Select ENSP00000205557.7:p.Cys963Phe
ENST00000205557.11:c.2888G>T ENSP00000205557.7:p.Cys963Phe
ENST00000456970.6:c.2713G>T ENSP00000405002.2:n.2713G>T
ENST00000622290.4:c.*97G>T ENSP00000483331.1:n.*97G>T
NM_001171.5:c.2888G>T NP_001162.4:p.Cys963Phe
XM_011522479.1:c.2855G>T XP_011520781.1:p.Cys952Phe
XM_011522480.1:c.2546G>T XP_011520782.1:p.Cys849Phe
XM_011522481.1:c.2546G>T XP_011520783.1:p.Cys849Phe
XR_932836.1:n.3123G>T
XR_932837.1:n.3124G>T
XR_932838.1:n.3124G>T
NM_001351800.1:c.2546G>T NP_001338729.1:p.Cys849Phe
NR_147784.1:n.2750G>T
XM_011522479.2:c.2855G>T XP_011520781.1:p.Cys952Phe
XM_011522481.3:c.2546G>T XP_011520783.1:p.Cys849Phe
XM_017023212.1:c.2720G>T XP_016878701.1:p.Cys907Phe
XM_017023214.1:c.2888G>T XP_016878703.1:p.Cys963Phe
XM_024450261.1:c.2924G>T XP_024306029.1:p.Cys975Phe
XR_932836.2:n.3069G>T
XR_932837.3:n.3069G>T
XR_932838.3:n.3069G>T
NM_001171.6:c.2888G>T MANE Select NP_001162.5:p.Cys963Phe