Canonical Allele Identifier: CA394890853

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16297266C>G (hg19) ; chr16:g.16203409C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16203409C>G , CM000678.2:g.16203409C>G	GRCh38
NC_000016.9:g.16297266C>G , CM000678.1:g.16297266C>G	GRCh37
NC_000016.8:g.16204767C>G	NCBI36
NG_007558.2:g.25063G>C
NG_007558.3:g.25209G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.998+1G>C	ENSP00000507301.1:n.998+1G>C
ENST00000622290.5:c.998+1G>C	ENSP00000483331.2:n.998+1G>C
ENST00000205557.12:c.998+1G>C MANE Select	ENSP00000205557.7:n.998+1G>C
ENST00000205557.11:c.998+1G>C	ENSP00000205557.7:n.998+1G>C
ENST00000456970.6:c.998+1G>C	ENSP00000405002.2:n.998+1G>C
ENST00000574094.5:n.1094+1G>C
ENST00000577103.1:c.*865+1G>C	ENSP00000459243.1:n.*865+1G>C
ENST00000622290.4:c.998+1G>C	ENSP00000483331.1:n.998+1G>C
NM_001171.5:c.998+1G>C	NP_001162.4:n.998+1G>C
XM_011522479.1:c.998+1G>C	XP_011520781.1:n.998+1G>C
XM_011522480.1:c.656+1G>C	XP_011520782.1:n.656+1G>C
XM_011522481.1:c.656+1G>C	XP_011520783.1:n.656+1G>C
XM_011522482.1:c.998+1G>C	XP_011520784.1:n.998+1G>C
XR_932836.1:n.1233+1G>C
XR_932837.1:n.1234+1G>C
XR_932838.1:n.1234+1G>C
NM_001351800.1:c.656+1G>C	NP_001338729.1:n.656+1G>C
NR_147784.1:n.1035+1G>C
XM_011522479.2:c.998+1G>C	XP_011520781.1:n.998+1G>C
XM_011522481.3:c.656+1G>C	XP_011520783.1:n.656+1G>C
XM_011522482.3:c.998+1G>C	XP_011520784.1:n.998+1G>C
XM_017023212.1:c.998+1G>C	XP_016878701.1:n.998+1G>C
XM_017023214.1:c.998+1G>C	XP_016878703.1:n.998+1G>C
XM_024450261.1:c.1034+1G>C	XP_024306029.1:n.1034+1G>C
XR_932836.2:n.1179+1G>C
XR_932837.3:n.1179+1G>C
XR_932838.3:n.1179+1G>C
NM_001171.6:c.998+1G>C MANE Select	NP_001162.5:n.998+1G>C