Canonical Allele Identifier: CA6494922

Gene: PTHLH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.27963542C>T , CM000674.2:g.27963542C>T	GRCh38
NC_000012.11:g.28116475C>T , CM000674.1:g.28116475C>T	GRCh37
NC_000012.10:g.28007742C>T	NCBI36
NG_023197.1:g.13442G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198965.2:c.330G>A MANE Select	NP_945316.1:p.Lys110=
ENST00000545234.6:c.330G>A MANE Select	ENSP00000441765.1:p.Lys110=
NM_002820.2:c.330G>A	NP_002811.1:p.Lys110=
NM_002820.3:c.330G>A	NP_002811.1:p.Lys110=
NM_198964.1:c.330G>A	NP_945315.1:p.Lys110=
NM_198964.2:c.330G>A	NP_945315.1:p.Lys110=
NM_198965.1:c.330G>A	NP_945316.1:p.Lys110=
NM_198966.1:c.330G>A	NP_945317.1:p.Lys110=
NM_198966.2:c.330G>A	NP_945317.1:p.Lys110=
ENST00000201015.8:c.330G>A	ENSP00000201015.4:p.Lys110=
ENST00000395868.7:c.330G>A	ENSP00000379209.3:p.Lys110=
ENST00000395872.5:c.330G>A	ENSP00000379213.1:p.Lys110=
ENST00000535992.5:c.330G>A	ENSP00000440613.1:p.Lys110=
ENST00000538310.1:c.330G>A	ENSP00000441890.1:p.Lys110=
ENST00000539239.5:c.330G>A	ENSP00000441571.1:p.Lys110=
ENST00000542963.1:c.330G>A	ENSP00000444519.1:p.Lys110=
ENST00000545234.5:c.330G>A	ENSP00000441765.1:p.Lys110=
XM_011520774.1:c.330G>A	XP_011519076.1:p.Lys110=
XM_011520774.2:c.330G>A	XP_011519076.1:p.Lys110=
XM_011520775.1:c.330G>A	XP_011519077.1:p.Lys110=
XM_011520775.2:c.330G>A	XP_011519077.1:p.Lys110=
XM_017019675.1:c.330G>A	XP_016875164.1:p.Lys110=