Canonical Allele Identifier: CA6494977

Gene: PTHLH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.27969495C>T , CM000674.2:g.27969495C>T	GRCh38
NC_000012.11:g.28122428C>T , CM000674.1:g.28122428C>T	GRCh37
NC_000012.10:g.28013695C>T	NCBI36
NG_023197.1:g.7489G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198965.2:c.-1G>A MANE Select	NP_945316.1:n.-1G>A
ENST00000545234.6:c.-1G>A MANE Select	ENSP00000441765.1:n.-1G>A
NM_002820.2:c.-1G>A	NP_002811.1:n.-1G>A
NM_002820.3:c.-1G>A	NP_002811.1:n.-1G>A
NM_198964.1:c.-1G>A	NP_945315.1:n.-1G>A
NM_198964.2:c.-1G>A	NP_945315.1:n.-1G>A
NM_198965.1:c.-1G>A	NP_945316.1:n.-1G>A
NM_198966.1:c.-1G>A	NP_945317.1:n.-1G>A
NM_198966.2:c.-1G>A	NP_945317.1:n.-1G>A
ENST00000201015.8:c.-1G>A	ENSP00000201015.4:n.-1G>A
ENST00000395868.7:c.-1G>A	ENSP00000379209.3:n.-1G>A
ENST00000395872.5:c.-1G>A	ENSP00000379213.1:n.-1G>A
ENST00000534890.1:c.24G>A	ENSP00000445157.1:p.Thr8=
ENST00000535992.5:c.-1G>A	ENSP00000440613.1:n.-1G>A
ENST00000539239.5:c.-1G>A	ENSP00000441571.1:n.-1G>A
ENST00000542963.1:c.-1G>A	ENSP00000444519.1:n.-1G>A
ENST00000545234.5:c.-1G>A	ENSP00000441765.1:n.-1G>A
XM_011520774.1:c.-1G>A	XP_011519076.1:n.-1G>A
XM_011520774.2:c.-1G>A	XP_011519076.1:n.-1G>A
XM_011520775.1:c.-1G>A	XP_011519077.1:n.-1G>A
XM_011520775.2:c.-1G>A	XP_011519077.1:n.-1G>A
XM_017019675.1:c.-1G>A	XP_016875164.1:n.-1G>A