Canonical Allele Identifier: CA2581198801
Gene: MKRN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23572574G>C , CM000677.2:g.23572574G>C GRCh38
NC_000015.9:g.23817721G>C , CM000677.1:g.23817721G>C GRCh37
NC_000015.8:g.21368814G>C NCBI36
NG_012875.2:g.12268G>C
NG_012875.3:g.12268G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000564592.1:c.483-2772G>C ENSP00000455368.1:n.483-2772G>C
ENST00000564592.2:c.483-2772G>C ENSP00000455368.1:n.483-2772G>C
ENST00000568252.1:c.305+6487G>C ENSP00000456779.1:n.305+6487G>C
ENST00000568945.2:n.430+5590G>C
ENST00000570112.1:c.*142-2772G>C ENSP00000457884.1:n.*142-2772G>C
ENST00000647595.1:c.51+6741G>C ENSP00000496869.1:n.51+6741G>C
ENST00000649065.1:c.482+5590G>C ENSP00000496859.1:n.482+5590G>C
ENST00000676568.1:c.927+5865G>C ENSP00000502884.1:n.927+5865G>C
ENST00000677119.1:c.306-2772G>C ENSP00000503815.1:n.306-2772G>C
ENST00000677372.1:c.426-2772G>C
ENST00000679144.1:c.305+6487G>C ENSP00000504844.1:n.305+6487G>C