Canonical Allele Identifier: CA394875587
Gene: ABCC6 HGNC NCBI

Linked Data

dbSNP Id: rs767636709

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154920G>A , CM000678.2:g.16154920G>A GRCh38
NC_000016.9:g.16248777G>A , CM000678.1:g.16248777G>A GRCh37
NC_000016.8:g.16156278G>A NCBI36
NG_007558.2:g.73552C>T
NG_007558.3:g.73698C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.857C>T
ENST00000622290.5:c.*166C>T ENSP00000483331.2:n.*166C>T
ENST00000205557.12:c.3994C>T MANE Select ENSP00000205557.7:p.His1332Tyr
ENST00000640696.1:c.808C>T ENSP00000492197.1:p.His270Tyr
ENST00000205557.11:c.3994C>T ENSP00000205557.7:p.His1332Tyr
ENST00000456970.6:c.3619C>T ENSP00000405002.2:n.3619C>T
ENST00000576204.5:n.857C>T
ENST00000622290.4:c.*1203C>T ENSP00000483331.1:n.*1203C>T
NM_001171.5:c.3994C>T NP_001162.4:p.His1332Tyr
XM_011522479.1:c.3961C>T XP_011520781.1:p.His1321Tyr
XM_011522480.1:c.3652C>T XP_011520782.1:p.His1218Tyr
XM_011522481.1:c.3652C>T XP_011520783.1:p.His1218Tyr
XR_933134.1:n.539-4861G>A
NM_001351800.1:c.3652C>T NP_001338729.1:p.His1218Tyr
NR_147784.1:n.3656C>T
XM_011522479.2:c.3961C>T XP_011520781.1:p.His1321Tyr
XM_011522481.3:c.3652C>T XP_011520783.1:p.His1218Tyr
XM_017023212.1:c.3826C>T XP_016878701.1:p.His1276Tyr
XM_024450261.1:c.4030C>T XP_024306029.1:p.His1344Tyr
NM_001171.6:c.3994C>T MANE Select NP_001162.5:p.His1332Tyr