Canonical Allele Identifier: CA394884370

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248503T>G (hg19) ; chr16:g.16154646T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154646T>G , CM000678.2:g.16154646T>G	GRCh38
NC_000016.9:g.16248503T>G , CM000678.1:g.16248503T>G	GRCh37
NC_000016.8:g.16156004T>G	NCBI36
NG_007558.2:g.73826A>C
NG_007558.3:g.73972A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*362A>C	ENSP00000483331.2:n.*362A>C
ENST00000205557.12:c.4190A>C MANE Select	ENSP00000205557.7:p.Asp1397Ala
ENST00000640696.1:c.1004A>C	ENSP00000492197.1:p.Asp335Ala
ENST00000205557.11:c.4190A>C	ENSP00000205557.7:p.Asp1397Ala
ENST00000456970.6:c.3815A>C	ENSP00000405002.2:n.3815A>C
ENST00000576204.5:n.1053A>C
ENST00000622290.4:c.*1399A>C	ENSP00000483331.1:n.*1399A>C
NM_001171.5:c.4190A>C	NP_001162.4:p.Asp1397Ala
XM_011522479.1:c.4157A>C	XP_011520781.1:p.Asp1386Ala
XM_011522480.1:c.3848A>C	XP_011520782.1:p.Asp1283Ala
XM_011522481.1:c.3848A>C	XP_011520783.1:p.Asp1283Ala
XR_933134.1:n.539-5135T>G
NM_001351800.1:c.3848A>C	NP_001338729.1:p.Asp1283Ala
NR_147784.1:n.3852A>C
XM_011522479.2:c.4157A>C	XP_011520781.1:p.Asp1386Ala
XM_011522481.3:c.3848A>C	XP_011520783.1:p.Asp1283Ala
XM_017023212.1:c.4022A>C	XP_016878701.1:p.Asp1341Ala
XM_024450261.1:c.4226A>C	XP_024306029.1:p.Asp1409Ala
NM_001171.6:c.4190A>C MANE Select	NP_001162.5:p.Asp1397Ala