Canonical Allele Identifier: CA394875540

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248764T>G (hg19) ; chr16:g.16154907T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154907T>G , CM000678.2:g.16154907T>G	GRCh38
NC_000016.9:g.16248764T>G , CM000678.1:g.16248764T>G	GRCh37
NC_000016.8:g.16156265T>G	NCBI36
NG_007558.2:g.73565A>C
NG_007558.3:g.73711A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.870A>C
ENST00000622290.5:c.*179A>C	ENSP00000483331.2:n.*179A>C
ENST00000205557.12:c.4007A>C MANE Select	ENSP00000205557.7:p.His1336Pro
ENST00000640696.1:c.821A>C	ENSP00000492197.1:p.His274Pro
ENST00000205557.11:c.4007A>C	ENSP00000205557.7:p.His1336Pro
ENST00000456970.6:c.3632A>C	ENSP00000405002.2:n.3632A>C
ENST00000576204.5:n.870A>C
ENST00000622290.4:c.*1216A>C	ENSP00000483331.1:n.*1216A>C
NM_001171.5:c.4007A>C	NP_001162.4:p.His1336Pro
XM_011522479.1:c.3974A>C	XP_011520781.1:p.His1325Pro
XM_011522480.1:c.3665A>C	XP_011520782.1:p.His1222Pro
XM_011522481.1:c.3665A>C	XP_011520783.1:p.His1222Pro
XR_933134.1:n.539-4874T>G
NM_001351800.1:c.3665A>C	NP_001338729.1:p.His1222Pro
NR_147784.1:n.3669A>C
XM_011522479.2:c.3974A>C	XP_011520781.1:p.His1325Pro
XM_011522481.3:c.3665A>C	XP_011520783.1:p.His1222Pro
XM_017023212.1:c.3839A>C	XP_016878701.1:p.His1280Pro
XM_024450261.1:c.4043A>C	XP_024306029.1:p.His1348Pro
NM_001171.6:c.4007A>C MANE Select	NP_001162.5:p.His1336Pro