Canonical Allele Identifier: CA479080453

Gene: PTHLH

Linked Data

• MyVariant Identifiers: chr12:g.28116628G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.27963695G>A , CM000674.2:g.27963695G>A	GRCh38
NC_000012.11:g.28116628G>A , CM000674.1:g.28116628G>A	GRCh37
NC_000012.10:g.28007895G>A	NCBI36
NG_023197.1:g.13289C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545234.6:c.177C>T MANE Select	ENSP00000441765.1:p.Phe59=
ENST00000201015.8:c.177C>T	ENSP00000201015.4:p.Phe59=
ENST00000395868.7:c.177C>T	ENSP00000379209.3:p.Phe59=
ENST00000395872.5:c.177C>T	ENSP00000379213.1:p.Phe59=
ENST00000534890.1:c.201C>T	ENSP00000445157.1:p.Phe67=
ENST00000535992.5:c.177C>T	ENSP00000440613.1:p.Phe59=
ENST00000538310.1:c.177C>T	ENSP00000441890.1:p.Phe59=
ENST00000539239.5:c.177C>T	ENSP00000441571.1:p.Phe59=
ENST00000542963.1:c.177C>T	ENSP00000444519.1:p.Phe59=
ENST00000545234.5:c.177C>T	ENSP00000441765.1:p.Phe59=
NM_002820.2:c.177C>T	NP_002811.1:p.Phe59=
NM_198964.1:c.177C>T	NP_945315.1:p.Phe59=
NM_198965.1:c.177C>T	NP_945316.1:p.Phe59=
NM_198966.1:c.177C>T	NP_945317.1:p.Phe59=
XM_011520774.1:c.177C>T	XP_011519076.1:p.Phe59=
XM_011520775.1:c.177C>T	XP_011519077.1:p.Phe59=
XM_011520774.2:c.177C>T	XP_011519076.1:p.Phe59=
XM_011520775.2:c.177C>T	XP_011519077.1:p.Phe59=
XM_017019675.1:c.177C>T	XP_016875164.1:p.Phe59=
NM_198964.2:c.177C>T	NP_945315.1:p.Phe59=
NM_198965.2:c.177C>T MANE Select	NP_945316.1:p.Phe59=
NM_198966.2:c.177C>T	NP_945317.1:p.Phe59=
NM_002820.3:c.177C>T	NP_002811.1:p.Phe59=