Canonical Allele Identifier: CA123419

Gene: PTHLH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.27963514T>A , CM000674.2:g.27963514T>A	GRCh38
NC_000012.11:g.28116447T>A , CM000674.1:g.28116447T>A	GRCh37
NC_000012.10:g.28007714T>A	NCBI36
NG_023197.1:g.13470A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198965.2:c.358A>T MANE Select	NP_945316.1:p.Lys120Ter
ENST00000545234.6:c.358A>T MANE Select	ENSP00000441765.1:p.Lys120Ter
NM_002820.2:c.358A>T	NP_002811.1:p.Lys120Ter
NM_002820.3:c.358A>T	NP_002811.1:p.Lys120Ter
NM_198964.1:c.358A>T	NP_945315.1:p.Lys120Ter
NM_198964.2:c.358A>T	NP_945315.1:p.Lys120Ter
NM_198965.1:c.358A>T	NP_945316.1:p.Lys120Ter
NM_198966.1:c.358A>T	NP_945317.1:p.Lys120Ter
NM_198966.2:c.358A>T	NP_945317.1:p.Lys120Ter
ENST00000201015.8:c.358A>T	ENSP00000201015.4:p.Lys120Ter
ENST00000395868.7:c.358A>T	ENSP00000379209.3:p.Lys120Ter
ENST00000395872.5:c.358A>T	ENSP00000379213.1:p.Lys120Ter
ENST00000535992.5:c.358A>T	ENSP00000440613.1:p.Lys120Ter
ENST00000538310.1:c.358A>T	ENSP00000441890.1:p.Lys120Ter
ENST00000539239.5:c.358A>T	ENSP00000441571.1:p.Lys120Ter
ENST00000542963.1:c.358A>T	ENSP00000444519.1:p.Lys120Ter
ENST00000545234.5:c.358A>T	ENSP00000441765.1:p.Lys120Ter
XM_011520774.1:c.358A>T	XP_011519076.1:p.Lys120Ter
XM_011520774.2:c.358A>T	XP_011519076.1:p.Lys120Ter
XM_011520775.1:c.358A>T	XP_011519077.1:p.Lys120Ter
XM_011520775.2:c.358A>T	XP_011519077.1:p.Lys120Ter
XM_017019675.1:c.358A>T	XP_016875164.1:p.Lys120Ter