Canonical Allele Identifier: CA394875767

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154962-C-A
• MyVariant Identifiers: chr16:g.16248819C>A (hg19) ; chr16:g.16154962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154962C>A , CM000678.2:g.16154962C>A	GRCh38
NC_000016.9:g.16248819C>A , CM000678.1:g.16248819C>A	GRCh37
NC_000016.8:g.16156320C>A	NCBI36
NG_007558.2:g.73510G>T
NG_007558.3:g.73656G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.815G>T
ENST00000622290.5:c.*124G>T	ENSP00000483331.2:n.*124G>T
ENST00000205557.12:c.3952G>T MANE Select	ENSP00000205557.7:p.Ala1318Ser
ENST00000640696.1:c.766G>T	ENSP00000492197.1:p.Ala256Ser
ENST00000205557.11:c.3952G>T	ENSP00000205557.7:p.Ala1318Ser
ENST00000456970.6:c.3577G>T	ENSP00000405002.2:n.3577G>T
ENST00000576204.5:n.815G>T
ENST00000622290.4:c.*1161G>T	ENSP00000483331.1:n.*1161G>T
NM_001171.5:c.3952G>T	NP_001162.4:p.Ala1318Ser
XM_011522479.1:c.3919G>T	XP_011520781.1:p.Ala1307Ser
XM_011522480.1:c.3610G>T	XP_011520782.1:p.Ala1204Ser
XM_011522481.1:c.3610G>T	XP_011520783.1:p.Ala1204Ser
XR_932836.1:n.4250G>T
XR_932837.1:n.3988G>T
XR_932838.1:n.4051G>T
XR_933134.1:n.539-4819C>A
NM_001351800.1:c.3610G>T	NP_001338729.1:p.Ala1204Ser
NR_147784.1:n.3614G>T
XM_011522479.2:c.3919G>T	XP_011520781.1:p.Ala1307Ser
XM_011522481.3:c.3610G>T	XP_011520783.1:p.Ala1204Ser
XM_017023212.1:c.3784G>T	XP_016878701.1:p.Ala1262Ser
XM_024450261.1:c.3988G>T	XP_024306029.1:p.Ala1330Ser
XR_932837.3:n.3933G>T
NM_001171.6:c.3952G>T MANE Select	NP_001162.5:p.Ala1318Ser