Canonical Allele Identifier: CA394875730

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248811C>G (hg19) ; chr16:g.16154954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154954C>G , CM000678.2:g.16154954C>G	GRCh38
NC_000016.9:g.16248811C>G , CM000678.1:g.16248811C>G	GRCh37
NC_000016.8:g.16156312C>G	NCBI36
NG_007558.2:g.73518G>C
NG_007558.3:g.73664G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.823G>C
ENST00000622290.5:c.*132G>C	ENSP00000483331.2:n.*132G>C
ENST00000205557.12:c.3960G>C MANE Select	ENSP00000205557.7:p.Glu1320Asp
ENST00000640696.1:c.774G>C	ENSP00000492197.1:p.Glu258Asp
ENST00000205557.11:c.3960G>C	ENSP00000205557.7:p.Glu1320Asp
ENST00000456970.6:c.3585G>C	ENSP00000405002.2:n.3585G>C
ENST00000576204.5:n.823G>C
ENST00000622290.4:c.*1169G>C	ENSP00000483331.1:n.*1169G>C
NM_001171.5:c.3960G>C	NP_001162.4:p.Glu1320Asp
XM_011522479.1:c.3927G>C	XP_011520781.1:p.Glu1309Asp
XM_011522480.1:c.3618G>C	XP_011520782.1:p.Glu1206Asp
XM_011522481.1:c.3618G>C	XP_011520783.1:p.Glu1206Asp
XR_932836.1:n.4258G>C
XR_932837.1:n.3996G>C
XR_932838.1:n.4059G>C
XR_933134.1:n.539-4827C>G
NM_001351800.1:c.3618G>C	NP_001338729.1:p.Glu1206Asp
NR_147784.1:n.3622G>C
XM_011522479.2:c.3927G>C	XP_011520781.1:p.Glu1309Asp
XM_011522481.3:c.3618G>C	XP_011520783.1:p.Glu1206Asp
XM_017023212.1:c.3792G>C	XP_016878701.1:p.Glu1264Asp
XM_024450261.1:c.3996G>C	XP_024306029.1:p.Glu1332Asp
XR_932837.3:n.3941G>C
NM_001171.6:c.3960G>C MANE Select	NP_001162.5:p.Glu1320Asp