Canonical Allele Identifier: CA394883658

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244100T>A (hg19) ; chr16:g.16150243T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150243T>A , CM000678.2:g.16150243T>A	GRCh38
NC_000016.9:g.16244100T>A , CM000678.1:g.16244100T>A	GRCh37
NC_000016.8:g.16151601T>A	NCBI36
NG_007558.2:g.78229A>T
NG_007558.3:g.78375A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*576-2A>T	ENSP00000483331.2:n.*576-2A>T
ENST00000205557.12:c.4404-2A>T MANE Select	ENSP00000205557.7:n.4404-2A>T
ENST00000640696.1:c.1218-2A>T	ENSP00000492197.1:n.1218-2A>T
ENST00000205557.11:c.4404-2A>T	ENSP00000205557.7:n.4404-2A>T
ENST00000456970.6:c.4029-2A>T	ENSP00000405002.2:n.4029-2A>T
ENST00000576204.5:n.1267-2A>T
ENST00000622290.4:c.*1613-2A>T	ENSP00000483331.1:n.*1613-2A>T
NM_001171.5:c.4404-2A>T	NP_001162.4:n.4404-2A>T
XM_011522479.1:c.4371-2A>T	XP_011520781.1:n.4371-2A>T
XM_011522480.1:c.4062-2A>T	XP_011520782.1:n.4062-2A>T
XM_011522481.1:c.4062-2A>T	XP_011520783.1:n.4062-2A>T
XR_933134.1:n.538+5953T>A
NM_001351800.1:c.4062-2A>T	NP_001338729.1:n.4062-2A>T
NR_147784.1:n.4066-2A>T
XM_011522479.2:c.4371-2A>T	XP_011520781.1:n.4371-2A>T
XM_011522481.3:c.4062-2A>T	XP_011520783.1:n.4062-2A>T
XM_017023212.1:c.4236-2A>T	XP_016878701.1:n.4236-2A>T
XM_024450261.1:c.4440-2A>T	XP_024306029.1:n.4440-2A>T
NM_001171.6:c.4404-2A>T MANE Select	NP_001162.5:n.4404-2A>T