Canonical Allele Identifier: CA494088381

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259591G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165734G>C , CM000678.2:g.16165734G>C	GRCh38
NC_000016.9:g.16259591G>C , CM000678.1:g.16259591G>C	GRCh37
NC_000016.8:g.16167092G>C	NCBI36
NG_007558.2:g.62738C>G
NG_007558.3:g.62884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3195C>G	ENSP00000483331.2:p.Ser1065=
ENST00000205557.12:c.3195C>G MANE Select	ENSP00000205557.7:p.Ser1065=
ENST00000640696.1:c.210C>G	ENSP00000492197.1:p.Ser70=
ENST00000205557.11:c.3195C>G	ENSP00000205557.7:p.Ser1065=
ENST00000456970.6:c.3020C>G	ENSP00000405002.2:n.3020C>G
ENST00000622290.4:c.*404C>G	ENSP00000483331.1:n.*404C>G
NM_001171.5:c.3195C>G	NP_001162.4:p.Ser1065=
XM_011522479.1:c.3162C>G	XP_011520781.1:p.Ser1054=
XM_011522480.1:c.2853C>G	XP_011520782.1:p.Ser951=
XM_011522481.1:c.2853C>G	XP_011520783.1:p.Ser951=
XR_932836.1:n.3430C>G
XR_932837.1:n.3431C>G
XR_932838.1:n.3431C>G
NM_001351800.1:c.2853C>G	NP_001338729.1:p.Ser951=
NR_147784.1:n.3057C>G
XM_011522479.2:c.3162C>G	XP_011520781.1:p.Ser1054=
XM_011522481.3:c.2853C>G	XP_011520783.1:p.Ser951=
XM_017023212.1:c.3027C>G	XP_016878701.1:p.Ser1009=
XM_017023214.1:c.3195C>G	XP_016878703.1:p.Ser1065=
XM_024450261.1:c.3231C>G	XP_024306029.1:p.Ser1077=
XR_932836.2:n.3376C>G
XR_932837.3:n.3376C>G
XR_932838.3:n.3376C>G
NM_001171.6:c.3195C>G MANE Select	NP_001162.5:p.Ser1065=