Canonical Allele Identifier: CA493797435

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248862T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155005T>G , CM000678.2:g.16155005T>G	GRCh38
NC_000016.9:g.16248862T>G , CM000678.1:g.16248862T>G	GRCh37
NC_000016.8:g.16156363T>G	NCBI36
NG_007558.2:g.73467A>C
NG_007558.3:g.73613A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.772A>C
ENST00000622290.5:c.*81A>C	ENSP00000483331.2:n.*81A>C
ENST00000205557.12:c.3909A>C MANE Select	ENSP00000205557.7:p.Ala1303=
ENST00000640696.1:c.723A>C	ENSP00000492197.1:p.Ala241=
ENST00000205557.11:c.3909A>C	ENSP00000205557.7:p.Ala1303=
ENST00000456970.6:c.3534A>C	ENSP00000405002.2:n.3534A>C
ENST00000576204.5:n.772A>C
ENST00000622290.4:c.*1118A>C	ENSP00000483331.1:n.*1118A>C
NM_001171.5:c.3909A>C	NP_001162.4:p.Ala1303=
XM_011522479.1:c.3876A>C	XP_011520781.1:p.Ala1292=
XM_011522480.1:c.3567A>C	XP_011520782.1:p.Ala1189=
XM_011522481.1:c.3567A>C	XP_011520783.1:p.Ala1189=
XR_932836.1:n.4207A>C
XR_932837.1:n.3945A>C
XR_932838.1:n.4008A>C
XR_933134.1:n.539-4776T>G
NM_001351800.1:c.3567A>C	NP_001338729.1:p.Ala1189=
NR_147784.1:n.3571A>C
XM_011522479.2:c.3876A>C	XP_011520781.1:p.Ala1292=
XM_011522481.3:c.3567A>C	XP_011520783.1:p.Ala1189=
XM_017023212.1:c.3741A>C	XP_016878701.1:p.Ala1247=
XM_024450261.1:c.3945A>C	XP_024306029.1:p.Ala1315=
XR_932836.2:n.4153A>C
XR_932837.3:n.3890A>C
XR_932838.3:n.3953A>C
NM_001171.6:c.3909A>C MANE Select	NP_001162.5:p.Ala1303=