Canonical Allele Identifier: CA394883940

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150710A>T , CM000678.2:g.16150710A>T	GRCh38
NC_000016.9:g.16244567A>T , CM000678.1:g.16244567A>T	GRCh37
NC_000016.8:g.16152068A>T	NCBI36
NG_007558.2:g.77762T>A
NG_007558.3:g.77908T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.4271T>A MANE Select	NP_001162.5:p.Ile1424Asn
ENST00000205557.12:c.4271T>A MANE Select	ENSP00000205557.7:p.Ile1424Asn
NM_001171.5:c.4271T>A	NP_001162.4:p.Ile1424Asn
NM_001351800.1:c.3929T>A	NP_001338729.1:p.Ile1310Asn
NR_147784.1:n.3933T>A
ENST00000205557.11:c.4271T>A	ENSP00000205557.7:p.Ile1424Asn
ENST00000456970.6:c.3896T>A	ENSP00000405002.2:n.3896T>A
ENST00000576204.5:n.1134T>A
ENST00000622290.4:c.*1480T>A	ENSP00000483331.1:n.*1480T>A
ENST00000622290.5:c.*443T>A	ENSP00000483331.2:n.*443T>A
ENST00000640696.1:c.1085T>A	ENSP00000492197.1:p.Ile362Asn
XM_011522479.1:c.4238T>A	XP_011520781.1:p.Ile1413Asn
XM_011522479.2:c.4238T>A	XP_011520781.1:p.Ile1413Asn
XM_011522480.1:c.3929T>A	XP_011520782.1:p.Ile1310Asn
XM_011522481.1:c.3929T>A	XP_011520783.1:p.Ile1310Asn
XM_011522481.3:c.3929T>A	XP_011520783.1:p.Ile1310Asn
XM_017023212.1:c.4103T>A	XP_016878701.1:p.Ile1368Asn
XM_024450261.1:c.4307T>A	XP_024306029.1:p.Ile1436Asn
XR_933134.1:n.538+6420A>T