Canonical Allele Identifier: CA2210147259
Community Standard Title: NM_001171.6(ABCC6):c.2511C= (p.Tyr837=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16177531G= , CM000678.2:g.16177531G= GRCh38
NC_000016.9:g.16271388G= , CM000678.1:g.16271388G= GRCh37
NC_000016.8:g.16178889G= NCBI36
NG_007558.2:g.50941C=
NG_007558.3:g.51087C=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.2511C= MANE Select NP_001162.5:p.Tyr837=
ENST00000205557.12:c.2511C= MANE Select ENSP00000205557.7:p.Tyr837=
NM_001171.5:c.2511C= NP_001162.4:p.Tyr837=
NM_001351800.1:c.2169C= NP_001338729.1:p.Tyr723=
NR_147784.1:n.2452+1267C=
ENST00000205557.11:c.2511C= ENSP00000205557.7:p.Tyr837=
ENST00000456970.6:c.2415+1267C= ENSP00000405002.2:n.2415+1267C=
ENST00000622290.4:c.2415+1267C= ENSP00000483331.1:n.2415+1267C=
ENST00000622290.5:c.2511C= ENSP00000483331.2:p.Tyr837=
XM_011522479.1:c.2478C= XP_011520781.1:p.Tyr826=
XM_011522479.2:c.2478C= XP_011520781.1:p.Tyr826=
XM_011522480.1:c.2169C= XP_011520782.1:p.Tyr723=
XM_011522481.1:c.2169C= XP_011520783.1:p.Tyr723=
XM_011522481.3:c.2169C= XP_011520783.1:p.Tyr723=
XM_011522482.1:c.2511C= XP_011520784.1:p.Tyr837=
XM_011522482.3:c.2511C= XP_011520784.1:p.Tyr837=
XM_017023212.1:c.2343C= XP_016878701.1:p.Tyr781=
XM_017023214.1:c.2511C= XP_016878703.1:p.Tyr837=
XM_024450261.1:c.2547C= XP_024306029.1:p.Tyr849=
XR_932836.1:n.2746C=
XR_932836.2:n.2692C=
XR_932837.1:n.2747C=
XR_932837.3:n.2692C=
XR_932838.1:n.2747C=
XR_932838.3:n.2692C=