Canonical Allele Identifier: CA493798062

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253414A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159557A>C , CM000678.2:g.16159557A>C	GRCh38
NC_000016.9:g.16253414A>C , CM000678.1:g.16253414A>C	GRCh37
NC_000016.8:g.16160915A>C	NCBI36
NG_007558.2:g.68915T>G
NG_007558.3:g.69061T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3660T>G	ENSP00000483331.2:p.Val1220=
ENST00000205557.12:c.3660T>G MANE Select	ENSP00000205557.7:p.Val1220=
ENST00000640696.1:c.474T>G	ENSP00000492197.1:p.Val158=
ENST00000205557.11:c.3660T>G	ENSP00000205557.7:p.Val1220=
ENST00000456970.6:c.3285T>G	ENSP00000405002.2:n.3285T>G
ENST00000622290.4:c.*869T>G	ENSP00000483331.1:n.*869T>G
NM_001171.5:c.3660T>G	NP_001162.4:p.Val1220=
XM_011522479.1:c.3627T>G	XP_011520781.1:p.Val1209=
XM_011522480.1:c.3318T>G	XP_011520782.1:p.Val1106=
XM_011522481.1:c.3318T>G	XP_011520783.1:p.Val1106=
XR_932836.1:n.3895T>G
XR_932837.1:n.3696T>G
XR_932838.1:n.3696T>G
XR_933134.1:n.539-224A>C
NM_001351800.1:c.3318T>G	NP_001338729.1:p.Val1106=
NR_147784.1:n.3322T>G
XM_011522479.2:c.3627T>G	XP_011520781.1:p.Val1209=
XM_011522481.3:c.3318T>G	XP_011520783.1:p.Val1106=
XM_017023212.1:c.3492T>G	XP_016878701.1:p.Val1164=
XM_024450261.1:c.3696T>G	XP_024306029.1:p.Val1232=
XR_932836.2:n.3841T>G
XR_932837.3:n.3641T>G
XR_932838.3:n.3641T>G
NM_001171.6:c.3660T>G MANE Select	NP_001162.5:p.Val1220=