Canonical Allele Identifier: CA2388386

Gene: P4HTM

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49004190C>T , CM000665.2:g.49004190C>T	GRCh38
NC_000003.11:g.49041623C>T , CM000665.1:g.49041623C>T	GRCh37
NC_000003.10:g.49016627C>T	NCBI36
NG_029915.1:g.1987C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177939.3:c.817C>T MANE Select	NP_808808.1:p.Arg273Trp
ENST00000383729.9:c.817C>T MANE Select	ENSP00000373235.4:p.Arg273Trp
NM_177938.2:c.817C>T	NP_808807.2:p.Arg273Trp
NM_177939.2:c.817C>T	NP_808808.1:p.Arg273Trp
ENST00000343546.8:c.817C>T	ENSP00000341422.4:p.Arg273Trp
ENST00000383729.8:c.817C>T	ENSP00000373235.4:p.Arg273Trp
ENST00000444213.5:c.605C>T
ENST00000468374.5:n.691C>T
ENST00000472301.5:n.1166C>T
ENST00000472796.2:c.193C>T	ENSP00000476858.1:p.Arg65Trp
ENST00000484115.5:n.2859C>T
ENST00000491739.5:c.252+1594C>T
XM_011533846.1:c.64C>T	XP_011532148.1:p.Arg22Trp
XR_940459.1:n.2026C>T