Canonical Allele Identifier: CA7925536

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16161547A>G , CM000678.2:g.16161547A>G	GRCh38
NC_000016.9:g.16255404A>G , CM000678.1:g.16255404A>G	GRCh37
NC_000016.8:g.16162905A>G	NCBI36
NG_007558.2:g.66925T>C
NG_007558.3:g.67071T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3524T>C MANE Select	NP_001162.5:p.Val1175Ala
ENST00000205557.12:c.3524T>C MANE Select	ENSP00000205557.7:p.Val1175Ala
NM_001171.5:c.3524T>C	NP_001162.4:p.Val1175Ala
NM_001351800.1:c.3182T>C	NP_001338729.1:p.Val1061Ala
NR_147784.1:n.3186T>C
ENST00000205557.11:c.3524T>C	ENSP00000205557.7:p.Val1175Ala
ENST00000456970.6:c.3149T>C	ENSP00000405002.2:n.3149T>C
ENST00000622290.4:c.*733T>C	ENSP00000483331.1:n.*733T>C
ENST00000622290.5:c.3524T>C	ENSP00000483331.2:p.Val1175Ala
ENST00000640696.1:c.338T>C	ENSP00000492197.1:p.Val113Ala
XM_011522479.1:c.3491T>C	XP_011520781.1:p.Val1164Ala
XM_011522479.2:c.3491T>C	XP_011520781.1:p.Val1164Ala
XM_011522480.1:c.3182T>C	XP_011520782.1:p.Val1061Ala
XM_011522481.1:c.3182T>C	XP_011520783.1:p.Val1061Ala
XM_011522481.3:c.3182T>C	XP_011520783.1:p.Val1061Ala
XM_017023212.1:c.3356T>C	XP_016878701.1:p.Val1119Ala
XM_017023214.1:c.3324T>C	XP_016878703.1:p.Cys1108=
XM_024450261.1:c.3560T>C	XP_024306029.1:p.Val1187Ala
XR_932836.1:n.3759T>C
XR_932836.2:n.3705T>C
XR_932837.1:n.3560T>C
XR_932837.3:n.3505T>C
XR_932838.1:n.3560T>C
XR_932838.3:n.3505T>C
XR_933133.1:n.260-1149A>G
XR_933134.1:n.607-1149A>G