Canonical Allele Identifier: CA391456321

Gene: MKRN3

Linked Data

• dbSNP Id: rs879255240
• gnomAD v2: 15-23812024-G-C
• gnomAD v4: 15-23566877-G-C
• MyVariant Identifiers: chr15:g.23812024G>C (hg19) ; chr15:g.23566877G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23566877G>C , CM000677.2:g.23566877G>C	GRCh38
NC_000015.9:g.23812024G>C , CM000677.1:g.23812024G>C	GRCh37
NC_000015.8:g.21363117G>C	NCBI36
NG_012875.2:g.6571G>C
NG_012875.3:g.6571G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314520.6:c.1095G>C MANE Select	ENSP00000313881.3:p.Arg365Ser
ENST00000564592.2:c.375G>C	ENSP00000455368.1:p.Arg125Ser
ENST00000647595.1:c.51+1044G>C	ENSP00000496869.1:n.51+1044G>C
ENST00000649065.1:c.375G>C	ENSP00000496859.1:p.Arg125Ser
ENST00000676568.1:c.927+168G>C	ENSP00000502884.1:n.927+168G>C
ENST00000677119.1:c.305+790G>C	ENSP00000503815.1:n.305+790G>C
ENST00000677372.1:c.318G>C
ENST00000678440.1:c.997G>C	ENSP00000503032.1:n.997G>C
ENST00000679144.1:c.305+790G>C	ENSP00000504844.1:n.305+790G>C
ENST00000314520.4:c.1095G>C	ENSP00000313881.3:p.Arg365Ser
ENST00000564592.1:c.375G>C	ENSP00000455368.1:p.Arg125Ser
ENST00000568252.1:c.305+790G>C	ENSP00000456779.1:n.305+790G>C
ENST00000568945.2:n.323G>C
ENST00000570112.1:c.*34G>C	ENSP00000457884.1:n.*34G>C
NM_005664.3:c.1095G>C	NP_005655.1:p.Arg365Ser
NM_005664.4:c.1095G>C MANE Select	NP_005655.1:p.Arg365Ser