Canonical Allele Identifier: CA278674985

Gene: ABCC6

Linked Data

• dbSNP Id: rs368798086
• MyVariant Identifiers: chr16:g.16243999G>A (hg19) ; chr16:g.16150142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150142G>A , CM000678.2:g.16150142G>A	GRCh38
NC_000016.9:g.16243999G>A , CM000678.1:g.16243999G>A	GRCh37
NC_000016.8:g.16151500G>A	NCBI36
NG_007558.2:g.78330C>T
NG_007558.3:g.78476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*675C>T	ENSP00000483331.2:n.*675C>T
ENST00000205557.12:c.4503C>T MANE Select	ENSP00000205557.7:p.Gly1501=
ENST00000640696.1:c.1317C>T	ENSP00000492197.1:p.Gly439=
ENST00000205557.11:c.4503C>T	ENSP00000205557.7:p.Gly1501=
ENST00000456970.6:c.4128C>T	ENSP00000405002.2:n.4128C>T
ENST00000576204.5:n.1366C>T
ENST00000622290.4:c.*1712C>T	ENSP00000483331.1:n.*1712C>T
NM_001171.5:c.4503C>T	NP_001162.4:p.Gly1501=
XM_011522479.1:c.4470C>T	XP_011520781.1:p.Gly1490=
XM_011522480.1:c.4161C>T	XP_011520782.1:p.Gly1387=
XM_011522481.1:c.4161C>T	XP_011520783.1:p.Gly1387=
XR_933134.1:n.538+5852G>A
NM_001351800.1:c.4161C>T	NP_001338729.1:p.Gly1387=
NR_147784.1:n.4165C>T
XM_011522479.2:c.4470C>T	XP_011520781.1:p.Gly1490=
XM_011522481.3:c.4161C>T	XP_011520783.1:p.Gly1387=
XM_017023212.1:c.4335C>T	XP_016878701.1:p.Gly1445=
XM_024450261.1:c.4539C>T	XP_024306029.1:p.Gly1513=
NM_001171.6:c.4503C>T MANE Select	NP_001162.5:p.Gly1501=