Canonical Allele Identifier: CA2580069967

Gene: P4HTM

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49005175G>C , CM000665.2:g.49005175G>C	GRCh38
NC_000003.11:g.49042608G>C , CM000665.1:g.49042608G>C	GRCh37
NC_000003.10:g.49017612G>C	NCBI36
NG_029915.1:g.2972G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_177939.3:c.1073+129G>C MANE Select	NP_808808.1:n.1073+129G>C
ENST00000383729.9:c.1073+129G>C MANE Select	ENSP00000373235.4:n.1073+129G>C
NM_177938.2:c.1197+5G>C	NP_808807.2:n.1197+5G>C
NM_177939.2:c.1073+129G>C	NP_808808.1:n.1073+129G>C
ENST00000343546.8:c.1197+5G>C	ENSP00000341422.4:n.1197+5G>C
ENST00000383729.8:c.1073+129G>C	ENSP00000373235.4:n.1073+129G>C
ENST00000472301.5:n.1551G>C
ENST00000484115.5:n.3844G>C
ENST00000491739.5:c.253-1512G>C
XM_011533846.1:c.320+129G>C	XP_011532148.1:n.320+129G>C
XR_940459.1:n.2282+129G>C