Canonical Allele Identifier: CA391454684
Community Standard Title: NM_005664.4(MKRN3):c.326G>A (p.Cys109Tyr)
Gene: MKRN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23566108G>A , CM000677.2:g.23566108G>A GRCh38
NC_000015.9:g.23811255G>A , CM000677.1:g.23811255G>A GRCh37
NC_000015.8:g.21362348G>A NCBI36
NG_012875.2:g.5802G>A
NG_012875.3:g.5802G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005664.4:c.326G>A MANE Select NP_005655.1:p.Cys109Tyr
ENST00000314520.6:c.326G>A MANE Select ENSP00000313881.3:p.Cys109Tyr
NM_005664.3:c.326G>A NP_005655.1:p.Cys109Tyr
ENST00000314520.4:c.326G>A ENSP00000313881.3:p.Cys109Tyr
ENST00000564592.1:c.305+21G>A ENSP00000455368.1:n.305+21G>A
ENST00000564592.2:c.305+21G>A ENSP00000455368.1:n.305+21G>A
ENST00000568252.1:c.305+21G>A ENSP00000456779.1:n.305+21G>A
ENST00000570112.1:c.51+275G>A ENSP00000457884.1:n.51+275G>A
ENST00000626930.1:c.30-185C>T ENSP00000486685.1:n.30-185C>T
ENST00000647595.1:c.51+275G>A ENSP00000496869.1:n.51+275G>A
ENST00000649065.1:c.305+21G>A ENSP00000496859.1:n.305+21G>A
ENST00000676568.1:c.326G>A ENSP00000502884.1:p.Cys109Tyr
ENST00000677119.1:c.305+21G>A ENSP00000503815.1:n.305+21G>A
ENST00000678440.1:c.326G>A ENSP00000503032.1:p.Cys109Tyr
ENST00000679144.1:c.305+21G>A ENSP00000504844.1:n.305+21G>A