Canonical Allele Identifier: CA2631961502

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16149997-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16149997C>T , CM000678.2:g.16149997C>T	GRCh38
NC_000016.9:g.16243854C>T , CM000678.1:g.16243854C>T	GRCh37
NC_000016.8:g.16151355C>T	NCBI36
NG_007558.2:g.78475G>A
NG_007558.3:g.78621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*820G>A	ENSP00000483331.2:n.*820G>A
ENST00000205557.12:c.*136G>A MANE Select	ENSP00000205557.7:n.*136G>A
ENST00000640696.1:c.1462G>A	ENSP00000492197.1:n.1462G>A
ENST00000205557.11:c.*136G>A	ENSP00000205557.7:n.*136G>A
ENST00000576204.5:n.1511G>A
ENST00000622290.4:c.*1857G>A	ENSP00000483331.1:n.*1857G>A
NM_001171.5:c.*136G>A	NP_001162.4:n.*136G>A
XM_011522479.1:c.*136G>A	XP_011520781.1:n.*136G>A
XM_011522480.1:c.*136G>A	XP_011520782.1:n.*136G>A
XM_011522481.1:c.*136G>A	XP_011520783.1:n.*136G>A
XR_933134.1:n.538+5707C>T
NM_001351800.1:c.*136G>A	NP_001338729.1:n.*136G>A
NR_147784.1:n.4310G>A
XM_011522479.2:c.*136G>A	XP_011520781.1:n.*136G>A
XM_011522481.3:c.*136G>A	XP_011520783.1:n.*136G>A
XM_017023212.1:c.*136G>A	XP_016878701.1:n.*136G>A
XM_024450261.1:c.*136G>A	XP_024306029.1:n.*136G>A
NM_001171.6:c.*136G>A MANE Select	NP_001162.5:n.*136G>A