Canonical Allele Identifier: CA2210140633
Community Standard Title: NM_001171.6(ABCC6):c.4060G= (p.Gly1354=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154776C= , CM000678.2:g.16154776C= GRCh38
NC_000016.9:g.16248633C= , CM000678.1:g.16248633C= GRCh37
NC_000016.8:g.16156134C= NCBI36
NG_007558.2:g.73696G=
NG_007558.3:g.73842G=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.4060G= MANE Select NP_001162.5:p.Gly1354=
ENST00000205557.12:c.4060G= MANE Select ENSP00000205557.7:p.Gly1354=
NM_001171.5:c.4060G= NP_001162.4:p.Gly1354=
NM_001351800.1:c.3718G= NP_001338729.1:p.Gly1240=
NR_147784.1:n.3722G=
ENST00000205557.11:c.4060G= ENSP00000205557.7:p.Gly1354=
ENST00000456970.6:c.3685G= ENSP00000405002.2:n.3685G=
ENST00000576204.5:n.923G=
ENST00000576204.6:n.923G=
ENST00000622290.4:c.*1269G= ENSP00000483331.1:n.*1269G=
ENST00000622290.5:c.*232G= ENSP00000483331.2:n.*232G=
ENST00000640696.1:c.874G= ENSP00000492197.1:p.Gly292=
XM_011522479.1:c.4027G= XP_011520781.1:p.Gly1343=
XM_011522479.2:c.4027G= XP_011520781.1:p.Gly1343=
XM_011522480.1:c.3718G= XP_011520782.1:p.Gly1240=
XM_011522481.1:c.3718G= XP_011520783.1:p.Gly1240=
XM_011522481.3:c.3718G= XP_011520783.1:p.Gly1240=
XM_017023212.1:c.3892G= XP_016878701.1:p.Gly1298=
XM_024450261.1:c.4096G= XP_024306029.1:p.Gly1366=
XR_933134.1:n.539-5005C=