Canonical Allele Identifier: CA394884663

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248590T>G (hg19) ; chr16:g.16154733T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154733T>G , CM000678.2:g.16154733T>G	GRCh38
NC_000016.9:g.16248590T>G , CM000678.1:g.16248590T>G	GRCh37
NC_000016.8:g.16156091T>G	NCBI36
NG_007558.2:g.73739A>C
NG_007558.3:g.73885A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.966A>C
ENST00000622290.5:c.*275A>C	ENSP00000483331.2:n.*275A>C
ENST00000205557.12:c.4103A>C MANE Select	ENSP00000205557.7:p.Asp1368Ala
ENST00000640696.1:c.917A>C	ENSP00000492197.1:p.Asp306Ala
ENST00000205557.11:c.4103A>C	ENSP00000205557.7:p.Asp1368Ala
ENST00000456970.6:c.3728A>C	ENSP00000405002.2:n.3728A>C
ENST00000576204.5:n.966A>C
ENST00000622290.4:c.*1312A>C	ENSP00000483331.1:n.*1312A>C
NM_001171.5:c.4103A>C	NP_001162.4:p.Asp1368Ala
XM_011522479.1:c.4070A>C	XP_011520781.1:p.Asp1357Ala
XM_011522480.1:c.3761A>C	XP_011520782.1:p.Asp1254Ala
XM_011522481.1:c.3761A>C	XP_011520783.1:p.Asp1254Ala
XR_933134.1:n.539-5048T>G
NM_001351800.1:c.3761A>C	NP_001338729.1:p.Asp1254Ala
NR_147784.1:n.3765A>C
XM_011522479.2:c.4070A>C	XP_011520781.1:p.Asp1357Ala
XM_011522481.3:c.3761A>C	XP_011520783.1:p.Asp1254Ala
XM_017023212.1:c.3935A>C	XP_016878701.1:p.Asp1312Ala
XM_024450261.1:c.4139A>C	XP_024306029.1:p.Asp1380Ala
NM_001171.6:c.4103A>C MANE Select	NP_001162.5:p.Asp1368Ala