Canonical Allele Identifier: CA394884454

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248527C>A (hg19) ; chr16:g.16154670C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154670C>A , CM000678.2:g.16154670C>A	GRCh38
NC_000016.9:g.16248527C>A , CM000678.1:g.16248527C>A	GRCh37
NC_000016.8:g.16156028C>A	NCBI36
NG_007558.2:g.73802G>T
NG_007558.3:g.73948G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*338G>T	ENSP00000483331.2:n.*338G>T
ENST00000205557.12:c.4166G>T MANE Select	ENSP00000205557.7:p.Gly1389Val
ENST00000640696.1:c.980G>T	ENSP00000492197.1:p.Gly327Val
ENST00000205557.11:c.4166G>T	ENSP00000205557.7:p.Gly1389Val
ENST00000456970.6:c.3791G>T	ENSP00000405002.2:n.3791G>T
ENST00000576204.5:n.1029G>T
ENST00000622290.4:c.*1375G>T	ENSP00000483331.1:n.*1375G>T
NM_001171.5:c.4166G>T	NP_001162.4:p.Gly1389Val
XM_011522479.1:c.4133G>T	XP_011520781.1:p.Gly1378Val
XM_011522480.1:c.3824G>T	XP_011520782.1:p.Gly1275Val
XM_011522481.1:c.3824G>T	XP_011520783.1:p.Gly1275Val
XR_933134.1:n.539-5111C>A
NM_001351800.1:c.3824G>T	NP_001338729.1:p.Gly1275Val
NR_147784.1:n.3828G>T
XM_011522479.2:c.4133G>T	XP_011520781.1:p.Gly1378Val
XM_011522481.3:c.3824G>T	XP_011520783.1:p.Gly1275Val
XM_017023212.1:c.3998G>T	XP_016878701.1:p.Gly1333Val
XM_024450261.1:c.4202G>T	XP_024306029.1:p.Gly1401Val
NM_001171.6:c.4166G>T MANE Select	NP_001162.5:p.Gly1389Val