Canonical Allele Identifier: CA394875447

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248744T>G (hg19) ; chr16:g.16154887T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154887T>G , CM000678.2:g.16154887T>G	GRCh38
NC_000016.9:g.16248744T>G , CM000678.1:g.16248744T>G	GRCh37
NC_000016.8:g.16156245T>G	NCBI36
NG_007558.2:g.73585A>C
NG_007558.3:g.73731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.890A>C
ENST00000622290.5:c.*199A>C	ENSP00000483331.2:n.*199A>C
ENST00000205557.12:c.4027A>C MANE Select	ENSP00000205557.7:p.Ser1343Arg
ENST00000640696.1:c.841A>C	ENSP00000492197.1:p.Ser281Arg
ENST00000205557.11:c.4027A>C	ENSP00000205557.7:p.Ser1343Arg
ENST00000456970.6:c.3652A>C	ENSP00000405002.2:n.3652A>C
ENST00000576204.5:n.890A>C
ENST00000622290.4:c.*1236A>C	ENSP00000483331.1:n.*1236A>C
NM_001171.5:c.4027A>C	NP_001162.4:p.Ser1343Arg
XM_011522479.1:c.3994A>C	XP_011520781.1:p.Ser1332Arg
XM_011522480.1:c.3685A>C	XP_011520782.1:p.Ser1229Arg
XM_011522481.1:c.3685A>C	XP_011520783.1:p.Ser1229Arg
XR_933134.1:n.539-4894T>G
NM_001351800.1:c.3685A>C	NP_001338729.1:p.Ser1229Arg
NR_147784.1:n.3689A>C
XM_011522479.2:c.3994A>C	XP_011520781.1:p.Ser1332Arg
XM_011522481.3:c.3685A>C	XP_011520783.1:p.Ser1229Arg
XM_017023212.1:c.3859A>C	XP_016878701.1:p.Ser1287Arg
XM_024450261.1:c.4063A>C	XP_024306029.1:p.Ser1355Arg
NM_001171.6:c.4027A>C MANE Select	NP_001162.5:p.Ser1343Arg