Canonical Allele Identifier: CA394878849

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253410T>G (hg19) ; chr16:g.16159553T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159553T>G , CM000678.2:g.16159553T>G	GRCh38
NC_000016.9:g.16253410T>G , CM000678.1:g.16253410T>G	GRCh37
NC_000016.8:g.16160911T>G	NCBI36
NG_007558.2:g.68919A>C
NG_007558.3:g.69065A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3664A>C	ENSP00000483331.2:p.Asn1222His
ENST00000205557.12:c.3664A>C MANE Select	ENSP00000205557.7:p.Asn1222His
ENST00000640696.1:c.478A>C	ENSP00000492197.1:p.Asn160His
ENST00000205557.11:c.3664A>C	ENSP00000205557.7:p.Asn1222His
ENST00000456970.6:c.3289A>C	ENSP00000405002.2:n.3289A>C
ENST00000622290.4:c.*873A>C	ENSP00000483331.1:n.*873A>C
NM_001171.5:c.3664A>C	NP_001162.4:p.Asn1222His
XM_011522479.1:c.3631A>C	XP_011520781.1:p.Asn1211His
XM_011522480.1:c.3322A>C	XP_011520782.1:p.Asn1108His
XM_011522481.1:c.3322A>C	XP_011520783.1:p.Asn1108His
XR_932836.1:n.3899A>C
XR_932837.1:n.3700A>C
XR_932838.1:n.3700A>C
XR_933134.1:n.539-228T>G
NM_001351800.1:c.3322A>C	NP_001338729.1:p.Asn1108His
NR_147784.1:n.3326A>C
XM_011522479.2:c.3631A>C	XP_011520781.1:p.Asn1211His
XM_011522481.3:c.3322A>C	XP_011520783.1:p.Asn1108His
XM_017023212.1:c.3496A>C	XP_016878701.1:p.Asn1166His
XM_024450261.1:c.3700A>C	XP_024306029.1:p.Asn1234His
XR_932836.2:n.3845A>C
XR_932837.3:n.3645A>C
XR_932838.3:n.3645A>C
NM_001171.6:c.3664A>C MANE Select	NP_001162.5:p.Asn1222His