Canonical Allele Identifier: CA493797296

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248814A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154957A>G , CM000678.2:g.16154957A>G	GRCh38
NC_000016.9:g.16248814A>G , CM000678.1:g.16248814A>G	GRCh37
NC_000016.8:g.16156315A>G	NCBI36
NG_007558.2:g.73515T>C
NG_007558.3:g.73661T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.820T>C
ENST00000622290.5:c.*129T>C	ENSP00000483331.2:n.*129T>C
ENST00000205557.12:c.3957T>C MANE Select	ENSP00000205557.7:p.Ala1319=
ENST00000640696.1:c.771T>C	ENSP00000492197.1:p.Ala257=
ENST00000205557.11:c.3957T>C	ENSP00000205557.7:p.Ala1319=
ENST00000456970.6:c.3582T>C	ENSP00000405002.2:n.3582T>C
ENST00000576204.5:n.820T>C
ENST00000622290.4:c.*1166T>C	ENSP00000483331.1:n.*1166T>C
NM_001171.5:c.3957T>C	NP_001162.4:p.Ala1319=
XM_011522479.1:c.3924T>C	XP_011520781.1:p.Ala1308=
XM_011522480.1:c.3615T>C	XP_011520782.1:p.Ala1205=
XM_011522481.1:c.3615T>C	XP_011520783.1:p.Ala1205=
XR_932836.1:n.4255T>C
XR_932837.1:n.3993T>C
XR_932838.1:n.4056T>C
XR_933134.1:n.539-4824A>G
NM_001351800.1:c.3615T>C	NP_001338729.1:p.Ala1205=
NR_147784.1:n.3619T>C
XM_011522479.2:c.3924T>C	XP_011520781.1:p.Ala1308=
XM_011522481.3:c.3615T>C	XP_011520783.1:p.Ala1205=
XM_017023212.1:c.3789T>C	XP_016878701.1:p.Ala1263=
XM_024450261.1:c.3993T>C	XP_024306029.1:p.Ala1331=
XR_932837.3:n.3938T>C
NM_001171.6:c.3957T>C MANE Select	NP_001162.5:p.Ala1319=