Canonical Allele Identifier: CA394884420

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248516A>G (hg19) ; chr16:g.16154659A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154659A>G , CM000678.2:g.16154659A>G	GRCh38
NC_000016.9:g.16248516A>G , CM000678.1:g.16248516A>G	GRCh37
NC_000016.8:g.16156017A>G	NCBI36
NG_007558.2:g.73813T>C
NG_007558.3:g.73959T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*349T>C	ENSP00000483331.2:n.*349T>C
ENST00000205557.12:c.4177T>C MANE Select	ENSP00000205557.7:p.Tyr1393His
ENST00000640696.1:c.991T>C	ENSP00000492197.1:p.Tyr331His
ENST00000205557.11:c.4177T>C	ENSP00000205557.7:p.Tyr1393His
ENST00000456970.6:c.3802T>C	ENSP00000405002.2:n.3802T>C
ENST00000576204.5:n.1040T>C
ENST00000622290.4:c.*1386T>C	ENSP00000483331.1:n.*1386T>C
NM_001171.5:c.4177T>C	NP_001162.4:p.Tyr1393His
XM_011522479.1:c.4144T>C	XP_011520781.1:p.Tyr1382His
XM_011522480.1:c.3835T>C	XP_011520782.1:p.Tyr1279His
XM_011522481.1:c.3835T>C	XP_011520783.1:p.Tyr1279His
XR_933134.1:n.539-5122A>G
NM_001351800.1:c.3835T>C	NP_001338729.1:p.Tyr1279His
NR_147784.1:n.3839T>C
XM_011522479.2:c.4144T>C	XP_011520781.1:p.Tyr1382His
XM_011522481.3:c.3835T>C	XP_011520783.1:p.Tyr1279His
XM_017023212.1:c.4009T>C	XP_016878701.1:p.Tyr1337His
XM_024450261.1:c.4213T>C	XP_024306029.1:p.Tyr1405His
NM_001171.6:c.4177T>C MANE Select	NP_001162.5:p.Tyr1393His