Canonical Allele Identifier: CA394878936

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253431T>C (hg19) ; chr16:g.16159574T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159574T>C , CM000678.2:g.16159574T>C	GRCh38
NC_000016.9:g.16253431T>C , CM000678.1:g.16253431T>C	GRCh37
NC_000016.8:g.16160932T>C	NCBI36
NG_007558.2:g.68898A>G
NG_007558.3:g.69044A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3643A>G	ENSP00000483331.2:p.Thr1215Ala
ENST00000205557.12:c.3643A>G MANE Select	ENSP00000205557.7:p.Thr1215Ala
ENST00000640696.1:c.457A>G	ENSP00000492197.1:p.Thr153Ala
ENST00000205557.11:c.3643A>G	ENSP00000205557.7:p.Thr1215Ala
ENST00000456970.6:c.3268A>G	ENSP00000405002.2:n.3268A>G
ENST00000622290.4:c.*852A>G	ENSP00000483331.1:n.*852A>G
NM_001171.5:c.3643A>G	NP_001162.4:p.Thr1215Ala
XM_011522479.1:c.3610A>G	XP_011520781.1:p.Thr1204Ala
XM_011522480.1:c.3301A>G	XP_011520782.1:p.Thr1101Ala
XM_011522481.1:c.3301A>G	XP_011520783.1:p.Thr1101Ala
XR_932836.1:n.3878A>G
XR_932837.1:n.3679A>G
XR_932838.1:n.3679A>G
XR_933134.1:n.539-207T>C
NM_001351800.1:c.3301A>G	NP_001338729.1:p.Thr1101Ala
NR_147784.1:n.3305A>G
XM_011522479.2:c.3610A>G	XP_011520781.1:p.Thr1204Ala
XM_011522481.3:c.3301A>G	XP_011520783.1:p.Thr1101Ala
XM_017023212.1:c.3475A>G	XP_016878701.1:p.Thr1159Ala
XM_024450261.1:c.3679A>G	XP_024306029.1:p.Thr1227Ala
XR_932836.2:n.3824A>G
XR_932837.3:n.3624A>G
XR_932838.3:n.3624A>G
NM_001171.6:c.3643A>G MANE Select	NP_001162.5:p.Thr1215Ala