Canonical Allele Identifier: CA394884747

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248617T>A (hg19) ; chr16:g.16154760T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154760T>A , CM000678.2:g.16154760T>A	GRCh38
NC_000016.9:g.16248617T>A , CM000678.1:g.16248617T>A	GRCh37
NC_000016.8:g.16156118T>A	NCBI36
NG_007558.2:g.73712A>T
NG_007558.3:g.73858A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.939A>T
ENST00000622290.5:c.*248A>T	ENSP00000483331.2:n.*248A>T
ENST00000205557.12:c.4076A>T MANE Select	ENSP00000205557.7:p.Asn1359Ile
ENST00000640696.1:c.890A>T	ENSP00000492197.1:p.Asn297Ile
ENST00000205557.11:c.4076A>T	ENSP00000205557.7:p.Asn1359Ile
ENST00000456970.6:c.3701A>T	ENSP00000405002.2:n.3701A>T
ENST00000576204.5:n.939A>T
ENST00000622290.4:c.*1285A>T	ENSP00000483331.1:n.*1285A>T
NM_001171.5:c.4076A>T	NP_001162.4:p.Asn1359Ile
XM_011522479.1:c.4043A>T	XP_011520781.1:p.Asn1348Ile
XM_011522480.1:c.3734A>T	XP_011520782.1:p.Asn1245Ile
XM_011522481.1:c.3734A>T	XP_011520783.1:p.Asn1245Ile
XR_933134.1:n.539-5021T>A
NM_001351800.1:c.3734A>T	NP_001338729.1:p.Asn1245Ile
NR_147784.1:n.3738A>T
XM_011522479.2:c.4043A>T	XP_011520781.1:p.Asn1348Ile
XM_011522481.3:c.3734A>T	XP_011520783.1:p.Asn1245Ile
XM_017023212.1:c.3908A>T	XP_016878701.1:p.Asn1303Ile
XM_024450261.1:c.4112A>T	XP_024306029.1:p.Asn1371Ile
NM_001171.6:c.4076A>T MANE Select	NP_001162.5:p.Asn1359Ile