Canonical Allele Identifier: CA394883993

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244591A>T (hg19) ; chr16:g.16150734A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150734A>T , CM000678.2:g.16150734A>T	GRCh38
NC_000016.9:g.16244591A>T , CM000678.1:g.16244591A>T	GRCh37
NC_000016.8:g.16152092A>T	NCBI36
NG_007558.2:g.77738T>A
NG_007558.3:g.77884T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*419T>A	ENSP00000483331.2:n.*419T>A
ENST00000205557.12:c.4247T>A MANE Select	ENSP00000205557.7:p.Leu1416His
ENST00000640696.1:c.1061T>A	ENSP00000492197.1:p.Leu354His
ENST00000205557.11:c.4247T>A	ENSP00000205557.7:p.Leu1416His
ENST00000456970.6:c.3872T>A	ENSP00000405002.2:n.3872T>A
ENST00000576204.5:n.1110T>A
ENST00000622290.4:c.*1456T>A	ENSP00000483331.1:n.*1456T>A
NM_001171.5:c.4247T>A	NP_001162.4:p.Leu1416His
XM_011522479.1:c.4214T>A	XP_011520781.1:p.Leu1405His
XM_011522480.1:c.3905T>A	XP_011520782.1:p.Leu1302His
XM_011522481.1:c.3905T>A	XP_011520783.1:p.Leu1302His
XR_933134.1:n.538+6444A>T
NM_001351800.1:c.3905T>A	NP_001338729.1:p.Leu1302His
NR_147784.1:n.3909T>A
XM_011522479.2:c.4214T>A	XP_011520781.1:p.Leu1405His
XM_011522481.3:c.3905T>A	XP_011520783.1:p.Leu1302His
XM_017023212.1:c.4079T>A	XP_016878701.1:p.Leu1360His
XM_024450261.1:c.4283T>A	XP_024306029.1:p.Leu1428His
NM_001171.6:c.4247T>A MANE Select	NP_001162.5:p.Leu1416His