Canonical Allele Identifier: CA394887840

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16177614C>A , CM000678.2:g.16177614C>A	GRCh38
NC_000016.9:g.16271471C>A , CM000678.1:g.16271471C>A	GRCh37
NC_000016.8:g.16178972C>A	NCBI36
NG_007558.2:g.50858G>T
NG_007558.3:g.51004G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.2428G>T MANE Select	NP_001162.5:p.Val810Leu
ENST00000205557.12:c.2428G>T MANE Select	ENSP00000205557.7:p.Val810Leu
NM_001171.5:c.2428G>T	NP_001162.4:p.Val810Leu
NM_001351800.1:c.2086G>T	NP_001338729.1:p.Val696Leu
NR_147784.1:n.2452+1184G>T
ENST00000205557.11:c.2428G>T	ENSP00000205557.7:p.Val810Leu
ENST00000456970.6:c.2415+1184G>T	ENSP00000405002.2:n.2415+1184G>T
ENST00000622290.4:c.2415+1184G>T	ENSP00000483331.1:n.2415+1184G>T
ENST00000622290.5:c.2428G>T	ENSP00000483331.2:p.Val810Leu
XM_011522479.1:c.2395G>T	XP_011520781.1:p.Val799Leu
XM_011522479.2:c.2395G>T	XP_011520781.1:p.Val799Leu
XM_011522480.1:c.2086G>T	XP_011520782.1:p.Val696Leu
XM_011522481.1:c.2086G>T	XP_011520783.1:p.Val696Leu
XM_011522481.3:c.2086G>T	XP_011520783.1:p.Val696Leu
XM_011522482.1:c.2428G>T	XP_011520784.1:p.Val810Leu
XM_011522482.3:c.2428G>T	XP_011520784.1:p.Val810Leu
XM_017023212.1:c.2260G>T	XP_016878701.1:p.Val754Leu
XM_017023214.1:c.2428G>T	XP_016878703.1:p.Val810Leu
XM_024450261.1:c.2464G>T	XP_024306029.1:p.Val822Leu
XR_932836.1:n.2663G>T
XR_932836.2:n.2609G>T
XR_932837.1:n.2664G>T
XR_932837.3:n.2609G>T
XR_932838.1:n.2664G>T
XR_932838.3:n.2609G>T