Canonical Allele Identifier: CA2210149758
Community Standard Title: NM_001171.6(ABCC6):c.1994T= (p.Val665=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16182880A= , CM000678.2:g.16182880A= GRCh38
NC_000016.9:g.16276737A= , CM000678.1:g.16276737A= GRCh37
NC_000016.8:g.16184238A= NCBI36
NG_007558.2:g.45592T=
NG_007558.3:g.45738T=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.1994T= MANE Select NP_001162.5:p.Val665=
ENST00000205557.12:c.1994T= MANE Select ENSP00000205557.7:p.Val665=
NM_001171.5:c.1994T= NP_001162.4:p.Val665=
NM_001351800.1:c.1652T= NP_001338729.1:p.Val551=
NR_147784.1:n.2031T=
ENST00000205557.11:c.1994T= ENSP00000205557.7:p.Val665=
ENST00000456970.6:c.1994T= ENSP00000405002.2:p.Val665=
ENST00000574094.5:n.2040-955T=
ENST00000622290.4:c.1994T= ENSP00000483331.1:p.Val665=
ENST00000622290.5:c.1994T= ENSP00000483331.2:p.Val665=
XM_011522479.1:c.1994T= XP_011520781.1:p.Val665=
XM_011522479.2:c.1994T= XP_011520781.1:p.Val665=
XM_011522480.1:c.1652T= XP_011520782.1:p.Val551=
XM_011522481.1:c.1652T= XP_011520783.1:p.Val551=
XM_011522481.3:c.1652T= XP_011520783.1:p.Val551=
XM_011522482.1:c.1994T= XP_011520784.1:p.Val665=
XM_011522482.3:c.1994T= XP_011520784.1:p.Val665=
XM_017023212.1:c.1994T= XP_016878701.1:p.Val665=
XM_017023214.1:c.1994T= XP_016878703.1:p.Val665=
XM_024450261.1:c.2030T= XP_024306029.1:p.Val677=
XR_932836.1:n.2229T=
XR_932836.2:n.2175T=
XR_932837.1:n.2230T=
XR_932837.3:n.2175T=
XR_932838.1:n.2230T=
XR_932838.3:n.2175T=