Canonical Allele Identifier: CA352653509

Gene: P4HTM

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49001483A>C , CM000665.2:g.49001483A>C	GRCh38
NC_000003.11:g.49038916A>C , CM000665.1:g.49038916A>C	GRCh37
NC_000003.10:g.49013920A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_177939.3:c.482A>C MANE Select	NP_808808.1:p.His161Pro
ENST00000383729.9:c.482A>C MANE Select	ENSP00000373235.4:p.His161Pro
NM_177938.2:c.482A>C	NP_808807.2:p.His161Pro
NM_177939.2:c.482A>C	NP_808808.1:p.His161Pro
ENST00000343546.8:c.482A>C	ENSP00000341422.4:p.His161Pro
ENST00000383729.8:c.482A>C	ENSP00000373235.4:p.His161Pro
ENST00000444213.5:c.336A>C
ENST00000468374.5:n.356A>C
ENST00000472301.5:n.831A>C
ENST00000484115.5:n.1023A>C
ENST00000485210.1:n.411A>C
ENST00000486817.1:n.335A>C
ENST00000491739.5:c.10A>C
XM_011533845.1:c.482A>C	XP_011532147.1:p.His161Pro
XR_940459.1:n.1636A>C