Canonical Allele Identifier: CA230572889

Gene: DCPS GSEC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126345390G>T , CM000673.2:g.126345390G>T	GRCh38
NC_000011.9:g.126215285G>T , CM000673.1:g.126215285G>T	GRCh37
NC_000011.8:g.125720495G>T	NCBI36
NG_053153.1:g.47090G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014026.6:c.791G>T (DCPS) MANE Select	NP_054745.1:p.Arg264Leu
ENST00000263579.5:c.791G>T (DCPS) MANE Select	ENSP00000263579.4:p.Arg264Leu
NM_001350236.1:c.812G>T (DCPS)	NP_001337165.1:p.Arg271Leu
NM_001350236.2:c.812G>T (DCPS)	NP_001337165.1:p.Arg271Leu
NM_014026.4:c.791G>T (DCPS)	NP_054745.1:p.Arg264Leu
NM_014026.5:c.791G>T (DCPS)	NP_054745.1:p.Arg264Leu
NR_033839.1:n.147-3068C>A (GSEC)
ENST00000263579.4:c.791G>T (DCPS)	ENSP00000263579.4:p.Arg264Leu
ENST00000529149.1:n.2141G>T (DCPS)
ENST00000530860.5:n.302G>T (DCPS)
ENST00000648516.1:c.512G>T (DCPS)	ENSP00000497684.1:p.Arg171Leu
XM_011542778.1:c.812G>T (DCPS)	XP_011541080.1:p.Arg271Leu
XM_011542779.1:c.512G>T (DCPS)	XP_011541081.1:p.Arg171Leu
XM_011542780.1:c.512G>T (DCPS)	XP_011541082.1:p.Arg171Leu