Canonical Allele Identifier: CA493797192
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16248751G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154894G>C , CM000678.2:g.16154894G>C GRCh38
NC_000016.9:g.16248751G>C , CM000678.1:g.16248751G>C GRCh37
NC_000016.8:g.16156252G>C NCBI36
NG_007558.2:g.73578C>G
NG_007558.3:g.73724C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.883C>G
ENST00000622290.5:c.*192C>G ENSP00000483331.2:n.*192C>G
ENST00000205557.12:c.4020C>G MANE Select ENSP00000205557.7:p.Ser1340=
ENST00000640696.1:c.834C>G ENSP00000492197.1:p.Ser278=
ENST00000205557.11:c.4020C>G ENSP00000205557.7:p.Ser1340=
ENST00000456970.6:c.3645C>G ENSP00000405002.2:n.3645C>G
ENST00000576204.5:n.883C>G
ENST00000622290.4:c.*1229C>G ENSP00000483331.1:n.*1229C>G
NM_001171.5:c.4020C>G NP_001162.4:p.Ser1340=
XM_011522479.1:c.3987C>G XP_011520781.1:p.Ser1329=
XM_011522480.1:c.3678C>G XP_011520782.1:p.Ser1226=
XM_011522481.1:c.3678C>G XP_011520783.1:p.Ser1226=
XR_933134.1:n.539-4887G>C
NM_001351800.1:c.3678C>G NP_001338729.1:p.Ser1226=
NR_147784.1:n.3682C>G
XM_011522479.2:c.3987C>G XP_011520781.1:p.Ser1329=
XM_011522481.3:c.3678C>G XP_011520783.1:p.Ser1226=
XM_017023212.1:c.3852C>G XP_016878701.1:p.Ser1284=
XM_024450261.1:c.4056C>G XP_024306029.1:p.Ser1352=
NM_001171.6:c.4020C>G MANE Select NP_001162.5:p.Ser1340=