Canonical Allele Identifier: CA394890354

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16291984T>G (hg19) ; chr16:g.16198127T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198127T>G , CM000678.2:g.16198127T>G	GRCh38
NC_000016.9:g.16291984T>G , CM000678.1:g.16291984T>G	GRCh37
NC_000016.8:g.16199485T>G	NCBI36
NG_007558.2:g.30345A>C
NG_007558.3:g.30491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1232A>C	ENSP00000507301.1:p.Asn411Thr
ENST00000622290.5:c.1232A>C	ENSP00000483331.2:p.Asn411Thr
ENST00000205557.12:c.1232A>C MANE Select	ENSP00000205557.7:p.Asn411Thr
ENST00000205557.11:c.1232A>C	ENSP00000205557.7:p.Asn411Thr
ENST00000456970.6:c.1232A>C	ENSP00000405002.2:p.Asn411Thr
ENST00000574094.5:n.1328A>C
ENST00000622290.4:c.1232A>C	ENSP00000483331.1:p.Asn411Thr
NM_001171.5:c.1232A>C	NP_001162.4:p.Asn411Thr
XM_011522479.1:c.1232A>C	XP_011520781.1:p.Asn411Thr
XM_011522480.1:c.890A>C	XP_011520782.1:p.Asn297Thr
XM_011522481.1:c.890A>C	XP_011520783.1:p.Asn297Thr
XM_011522482.1:c.1232A>C	XP_011520784.1:p.Asn411Thr
XR_932836.1:n.1467A>C
XR_932837.1:n.1468A>C
XR_932838.1:n.1468A>C
NM_001351800.1:c.890A>C	NP_001338729.1:p.Asn297Thr
NR_147784.1:n.1269A>C
XM_011522479.2:c.1232A>C	XP_011520781.1:p.Asn411Thr
XM_011522481.3:c.890A>C	XP_011520783.1:p.Asn297Thr
XM_011522482.3:c.1232A>C	XP_011520784.1:p.Asn411Thr
XM_017023212.1:c.1232A>C	XP_016878701.1:p.Asn411Thr
XM_017023214.1:c.1232A>C	XP_016878703.1:p.Asn411Thr
XM_024450261.1:c.1268A>C	XP_024306029.1:p.Asn423Thr
XR_932836.2:n.1413A>C
XR_932837.3:n.1413A>C
XR_932838.3:n.1413A>C
NM_001171.6:c.1232A>C MANE Select	NP_001162.5:p.Asn411Thr