Canonical Allele Identifier: CA394876027

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248852A>T (hg19) ; chr16:g.16154995A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154995A>T , CM000678.2:g.16154995A>T	GRCh38
NC_000016.9:g.16248852A>T , CM000678.1:g.16248852A>T	GRCh37
NC_000016.8:g.16156353A>T	NCBI36
NG_007558.2:g.73477T>A
NG_007558.3:g.73623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.782T>A
ENST00000622290.5:c.*91T>A	ENSP00000483331.2:n.*91T>A
ENST00000205557.12:c.3919T>A MANE Select	ENSP00000205557.7:p.Ser1307Thr
ENST00000640696.1:c.733T>A	ENSP00000492197.1:p.Ser245Thr
ENST00000205557.11:c.3919T>A	ENSP00000205557.7:p.Ser1307Thr
ENST00000456970.6:c.3544T>A	ENSP00000405002.2:n.3544T>A
ENST00000576204.5:n.782T>A
ENST00000622290.4:c.*1128T>A	ENSP00000483331.1:n.*1128T>A
NM_001171.5:c.3919T>A	NP_001162.4:p.Ser1307Thr
XM_011522479.1:c.3886T>A	XP_011520781.1:p.Ser1296Thr
XM_011522480.1:c.3577T>A	XP_011520782.1:p.Ser1193Thr
XM_011522481.1:c.3577T>A	XP_011520783.1:p.Ser1193Thr
XR_932836.1:n.4217T>A
XR_932837.1:n.3955T>A
XR_932838.1:n.4018T>A
XR_933134.1:n.539-4786A>T
NM_001351800.1:c.3577T>A	NP_001338729.1:p.Ser1193Thr
NR_147784.1:n.3581T>A
XM_011522479.2:c.3886T>A	XP_011520781.1:p.Ser1296Thr
XM_011522481.3:c.3577T>A	XP_011520783.1:p.Ser1193Thr
XM_017023212.1:c.3751T>A	XP_016878701.1:p.Ser1251Thr
XM_024450261.1:c.3955T>A	XP_024306029.1:p.Ser1319Thr
XR_932836.2:n.4163T>A
XR_932837.3:n.3900T>A
XR_932838.3:n.3963T>A
NM_001171.6:c.3919T>A MANE Select	NP_001162.5:p.Ser1307Thr