Canonical Allele Identifier: CA394878861

Gene: ABCC6

Linked Data

• dbSNP Id: rs63751215
• MyVariant Identifiers: chr16:g.16253413G>C (hg19) ; chr16:g.16159556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159556G>C , CM000678.2:g.16159556G>C	GRCh38
NC_000016.9:g.16253413G>C , CM000678.1:g.16253413G>C	GRCh37
NC_000016.8:g.16160914G>C	NCBI36
NG_007558.2:g.68916C>G
NG_007558.3:g.69062C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3661C>G	ENSP00000483331.2:p.Arg1221Gly
ENST00000205557.12:c.3661C>G MANE Select	ENSP00000205557.7:p.Arg1221Gly
ENST00000640696.1:c.475C>G	ENSP00000492197.1:p.Arg159Gly
ENST00000205557.11:c.3661C>G	ENSP00000205557.7:p.Arg1221Gly
ENST00000456970.6:c.3286C>G	ENSP00000405002.2:n.3286C>G
ENST00000622290.4:c.*870C>G	ENSP00000483331.1:n.*870C>G
NM_001171.5:c.3661C>G	NP_001162.4:p.Arg1221Gly
XM_011522479.1:c.3628C>G	XP_011520781.1:p.Arg1210Gly
XM_011522480.1:c.3319C>G	XP_011520782.1:p.Arg1107Gly
XM_011522481.1:c.3319C>G	XP_011520783.1:p.Arg1107Gly
XR_932836.1:n.3896C>G
XR_932837.1:n.3697C>G
XR_932838.1:n.3697C>G
XR_933134.1:n.539-225G>C
NM_001351800.1:c.3319C>G	NP_001338729.1:p.Arg1107Gly
NR_147784.1:n.3323C>G
XM_011522479.2:c.3628C>G	XP_011520781.1:p.Arg1210Gly
XM_011522481.3:c.3319C>G	XP_011520783.1:p.Arg1107Gly
XM_017023212.1:c.3493C>G	XP_016878701.1:p.Arg1165Gly
XM_024450261.1:c.3697C>G	XP_024306029.1:p.Arg1233Gly
XR_932836.2:n.3842C>G
XR_932837.3:n.3642C>G
XR_932838.3:n.3642C>G
NM_001171.6:c.3661C>G MANE Select	NP_001162.5:p.Arg1221Gly