Canonical Allele Identifier: CA394878719

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159505C>A , CM000678.2:g.16159505C>A	GRCh38
NC_000016.9:g.16253362C>A , CM000678.1:g.16253362C>A	GRCh37
NC_000016.8:g.16160863C>A	NCBI36
NG_007558.2:g.68967G>T
NG_007558.3:g.69113G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3712G>T MANE Select	NP_001162.5:p.Asp1238Tyr
ENST00000205557.12:c.3712G>T MANE Select	ENSP00000205557.7:p.Asp1238Tyr
NM_001171.5:c.3712G>T	NP_001162.4:p.Asp1238Tyr
NM_001351800.1:c.3370G>T	NP_001338729.1:p.Asp1124Tyr
NR_147784.1:n.3374G>T
ENST00000205557.11:c.3712G>T	ENSP00000205557.7:p.Asp1238Tyr
ENST00000456970.6:c.3337G>T	ENSP00000405002.2:n.3337G>T
ENST00000622290.4:c.*921G>T	ENSP00000483331.1:n.*921G>T
ENST00000622290.5:c.3712G>T	ENSP00000483331.2:p.Asp1238Tyr
ENST00000640696.1:c.526G>T	ENSP00000492197.1:p.Asp176Tyr
XM_011522479.1:c.3679G>T	XP_011520781.1:p.Asp1227Tyr
XM_011522479.2:c.3679G>T	XP_011520781.1:p.Asp1227Tyr
XM_011522480.1:c.3370G>T	XP_011520782.1:p.Asp1124Tyr
XM_011522481.1:c.3370G>T	XP_011520783.1:p.Asp1124Tyr
XM_011522481.3:c.3370G>T	XP_011520783.1:p.Asp1124Tyr
XM_017023212.1:c.3544G>T	XP_016878701.1:p.Asp1182Tyr
XM_024450261.1:c.3748G>T	XP_024306029.1:p.Asp1250Tyr
XR_932836.1:n.3947G>T
XR_932836.2:n.3893G>T
XR_932837.1:n.3748G>T
XR_932837.3:n.3693G>T
XR_932838.1:n.3748G>T
XR_932838.3:n.3693G>T
XR_933134.1:n.539-276C>A