Canonical Allele Identifier: CA394876181

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16155013-T-A
• MyVariant Identifiers: chr16:g.16248870T>A (hg19) ; chr16:g.16155013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155013T>A , CM000678.2:g.16155013T>A	GRCh38
NC_000016.9:g.16248870T>A , CM000678.1:g.16248870T>A	GRCh37
NC_000016.8:g.16156371T>A	NCBI36
NG_007558.2:g.73459A>T
NG_007558.3:g.73605A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.764A>T
ENST00000622290.5:c.*73A>T	ENSP00000483331.2:n.*73A>T
ENST00000205557.12:c.3901A>T MANE Select	ENSP00000205557.7:p.Thr1301Ser
ENST00000640696.1:c.715A>T	ENSP00000492197.1:p.Thr239Ser
ENST00000205557.11:c.3901A>T	ENSP00000205557.7:p.Thr1301Ser
ENST00000456970.6:c.3526A>T	ENSP00000405002.2:n.3526A>T
ENST00000576204.5:n.764A>T
ENST00000622290.4:c.*1110A>T	ENSP00000483331.1:n.*1110A>T
NM_001171.5:c.3901A>T	NP_001162.4:p.Thr1301Ser
XM_011522479.1:c.3868A>T	XP_011520781.1:p.Thr1290Ser
XM_011522480.1:c.3559A>T	XP_011520782.1:p.Thr1187Ser
XM_011522481.1:c.3559A>T	XP_011520783.1:p.Thr1187Ser
XR_932836.1:n.4199A>T
XR_932837.1:n.3937A>T
XR_932838.1:n.4000A>T
XR_933134.1:n.539-4768T>A
NM_001351800.1:c.3559A>T	NP_001338729.1:p.Thr1187Ser
NR_147784.1:n.3563A>T
XM_011522479.2:c.3868A>T	XP_011520781.1:p.Thr1290Ser
XM_011522481.3:c.3559A>T	XP_011520783.1:p.Thr1187Ser
XM_017023212.1:c.3733A>T	XP_016878701.1:p.Thr1245Ser
XM_024450261.1:c.3937A>T	XP_024306029.1:p.Thr1313Ser
XR_932836.2:n.4145A>T
XR_932837.3:n.3882A>T
XR_932838.3:n.3945A>T
NM_001171.6:c.3901A>T MANE Select	NP_001162.5:p.Thr1301Ser