Canonical Allele Identifier: CA362656709

Gene: CDYL

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.4892250G>C , CM000668.2:g.4892250G>C	GRCh38
NC_000006.11:g.4892484G>C , CM000668.1:g.4892484G>C	GRCh37
NC_000006.10:g.4837483G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004824.4:c.562G>C MANE Select	NP_004815.3:p.Gly188Arg
ENST00000397588.8:c.562G>C MANE Select	ENSP00000380718.3:p.Gly188Arg
NM_001143970.1:c.166G>C	NP_001137442.1:p.Gly56Arg
NM_001143970.2:c.166G>C	NP_001137442.1:p.Gly56Arg
NM_001143971.1:c.166G>C	NP_001137443.1:p.Gly56Arg
NM_001143971.2:c.166G>C	NP_001137443.1:p.Gly56Arg
NM_001368125.1:c.724G>C	NP_001355054.1:p.Gly242Arg
NM_001368126.1:c.562G>C	NP_001355055.1:p.Gly188Arg
NM_001368127.1:c.-14-43265G>C	NP_001355056.1:n.-14-43265G>C
NM_004824.3:c.562G>C	NP_004815.3:p.Gly188Arg
NR_026590.1:n.855G>C
ENST00000328908.9:c.724G>C	ENSP00000330512.5:p.Gly242Arg
ENST00000343762.5:c.166G>C	ENSP00000340908.5:p.Gly56Arg
ENST00000397588.7:c.562G>C	ENSP00000380718.3:p.Gly188Arg
ENST00000440139.5:c.32-43265G>C	ENSP00000394740.1:n.32-43265G>C
ENST00000449732.6:c.166G>C	ENSP00000394076.2:p.Gly56Arg
ENST00000472453.5:n.367-43265G>C
ENST00000483019.1:n.676G>C
XM_011514997.1:c.562G>C	XP_011513299.1:p.Gly188Arg
XM_011514997.2:c.562G>C	XP_011513299.1:p.Gly188Arg