Canonical Allele Identifier: CA493799725

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046487383
• MyVariant Identifiers: chr16:g.16248631G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154774G>C , CM000678.2:g.16154774G>C	GRCh38
NC_000016.9:g.16248631G>C , CM000678.1:g.16248631G>C	GRCh37
NC_000016.8:g.16156132G>C	NCBI36
NG_007558.2:g.73698C>G
NG_007558.3:g.73844C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.925C>G
ENST00000622290.5:c.*234C>G	ENSP00000483331.2:n.*234C>G
ENST00000205557.12:c.4062C>G MANE Select	ENSP00000205557.7:p.Gly1354=
ENST00000640696.1:c.876C>G	ENSP00000492197.1:p.Gly292=
ENST00000205557.11:c.4062C>G	ENSP00000205557.7:p.Gly1354=
ENST00000456970.6:c.3687C>G	ENSP00000405002.2:n.3687C>G
ENST00000576204.5:n.925C>G
ENST00000622290.4:c.*1271C>G	ENSP00000483331.1:n.*1271C>G
NM_001171.5:c.4062C>G	NP_001162.4:p.Gly1354=
XM_011522479.1:c.4029C>G	XP_011520781.1:p.Gly1343=
XM_011522480.1:c.3720C>G	XP_011520782.1:p.Gly1240=
XM_011522481.1:c.3720C>G	XP_011520783.1:p.Gly1240=
XR_933134.1:n.539-5007G>C
NM_001351800.1:c.3720C>G	NP_001338729.1:p.Gly1240=
NR_147784.1:n.3724C>G
XM_011522479.2:c.4029C>G	XP_011520781.1:p.Gly1343=
XM_011522481.3:c.3720C>G	XP_011520783.1:p.Gly1240=
XM_017023212.1:c.3894C>G	XP_016878701.1:p.Gly1298=
XM_024450261.1:c.4098C>G	XP_024306029.1:p.Gly1366=
NM_001171.6:c.4062C>G MANE Select	NP_001162.5:p.Gly1354=