Canonical Allele Identifier: CA394884499

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248542A>C (hg19) ; chr16:g.16154685A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154685A>C , CM000678.2:g.16154685A>C	GRCh38
NC_000016.9:g.16248542A>C , CM000678.1:g.16248542A>C	GRCh37
NC_000016.8:g.16156043A>C	NCBI36
NG_007558.2:g.73787T>G
NG_007558.3:g.73933T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*323T>G	ENSP00000483331.2:n.*323T>G
ENST00000205557.12:c.4151T>G MANE Select	ENSP00000205557.7:p.Val1384Gly
ENST00000640696.1:c.965T>G	ENSP00000492197.1:p.Val322Gly
ENST00000205557.11:c.4151T>G	ENSP00000205557.7:p.Val1384Gly
ENST00000456970.6:c.3776T>G	ENSP00000405002.2:n.3776T>G
ENST00000576204.5:n.1014T>G
ENST00000622290.4:c.*1360T>G	ENSP00000483331.1:n.*1360T>G
NM_001171.5:c.4151T>G	NP_001162.4:p.Val1384Gly
XM_011522479.1:c.4118T>G	XP_011520781.1:p.Val1373Gly
XM_011522480.1:c.3809T>G	XP_011520782.1:p.Val1270Gly
XM_011522481.1:c.3809T>G	XP_011520783.1:p.Val1270Gly
XR_933134.1:n.539-5096A>C
NM_001351800.1:c.3809T>G	NP_001338729.1:p.Val1270Gly
NR_147784.1:n.3813T>G
XM_011522479.2:c.4118T>G	XP_011520781.1:p.Val1373Gly
XM_011522481.3:c.3809T>G	XP_011520783.1:p.Val1270Gly
XM_017023212.1:c.3983T>G	XP_016878701.1:p.Val1328Gly
XM_024450261.1:c.4187T>G	XP_024306029.1:p.Val1396Gly
NM_001171.6:c.4151T>G MANE Select	NP_001162.5:p.Val1384Gly