Canonical Allele Identifier: CA394884794

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248633C>A (hg19) ; chr16:g.16154776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154776C>A , CM000678.2:g.16154776C>A	GRCh38
NC_000016.9:g.16248633C>A , CM000678.1:g.16248633C>A	GRCh37
NC_000016.8:g.16156134C>A	NCBI36
NG_007558.2:g.73696G>T
NG_007558.3:g.73842G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.923G>T
ENST00000622290.5:c.*232G>T	ENSP00000483331.2:n.*232G>T
ENST00000205557.12:c.4060G>T MANE Select	ENSP00000205557.7:p.Gly1354Cys
ENST00000640696.1:c.874G>T	ENSP00000492197.1:p.Gly292Cys
ENST00000205557.11:c.4060G>T	ENSP00000205557.7:p.Gly1354Cys
ENST00000456970.6:c.3685G>T	ENSP00000405002.2:n.3685G>T
ENST00000576204.5:n.923G>T
ENST00000622290.4:c.*1269G>T	ENSP00000483331.1:n.*1269G>T
NM_001171.5:c.4060G>T	NP_001162.4:p.Gly1354Cys
XM_011522479.1:c.4027G>T	XP_011520781.1:p.Gly1343Cys
XM_011522480.1:c.3718G>T	XP_011520782.1:p.Gly1240Cys
XM_011522481.1:c.3718G>T	XP_011520783.1:p.Gly1240Cys
XR_933134.1:n.539-5005C>A
NM_001351800.1:c.3718G>T	NP_001338729.1:p.Gly1240Cys
NR_147784.1:n.3722G>T
XM_011522479.2:c.4027G>T	XP_011520781.1:p.Gly1343Cys
XM_011522481.3:c.3718G>T	XP_011520783.1:p.Gly1240Cys
XM_017023212.1:c.3892G>T	XP_016878701.1:p.Gly1298Cys
XM_024450261.1:c.4096G>T	XP_024306029.1:p.Gly1366Cys
NM_001171.6:c.4060G>T MANE Select	NP_001162.5:p.Gly1354Cys