Canonical Allele Identifier: CA384339488

Gene: PTHLH

Linked Data

• MyVariant Identifiers: chr12:g.28116632A>C (hg19) ; chr12:g.27963699A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.27963699A>C , CM000674.2:g.27963699A>C	GRCh38
NC_000012.11:g.28116632A>C , CM000674.1:g.28116632A>C	GRCh37
NC_000012.10:g.28007899A>C	NCBI36
NG_023197.1:g.13285T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545234.6:c.173T>G MANE Select	ENSP00000441765.1:p.Phe58Cys
ENST00000201015.8:c.173T>G	ENSP00000201015.4:p.Phe58Cys
ENST00000395868.7:c.173T>G	ENSP00000379209.3:p.Phe58Cys
ENST00000395872.5:c.173T>G	ENSP00000379213.1:p.Phe58Cys
ENST00000534890.1:c.197T>G	ENSP00000445157.1:p.Phe66Cys
ENST00000535992.5:c.173T>G	ENSP00000440613.1:p.Phe58Cys
ENST00000538310.1:c.173T>G	ENSP00000441890.1:p.Phe58Cys
ENST00000539239.5:c.173T>G	ENSP00000441571.1:p.Phe58Cys
ENST00000542963.1:c.173T>G	ENSP00000444519.1:p.Phe58Cys
ENST00000545234.5:c.173T>G	ENSP00000441765.1:p.Phe58Cys
NM_002820.2:c.173T>G	NP_002811.1:p.Phe58Cys
NM_198964.1:c.173T>G	NP_945315.1:p.Phe58Cys
NM_198965.1:c.173T>G	NP_945316.1:p.Phe58Cys
NM_198966.1:c.173T>G	NP_945317.1:p.Phe58Cys
XM_011520774.1:c.173T>G	XP_011519076.1:p.Phe58Cys
XM_011520775.1:c.173T>G	XP_011519077.1:p.Phe58Cys
XM_011520774.2:c.173T>G	XP_011519076.1:p.Phe58Cys
XM_011520775.2:c.173T>G	XP_011519077.1:p.Phe58Cys
XM_017019675.1:c.173T>G	XP_016875164.1:p.Phe58Cys
NM_198964.2:c.173T>G	NP_945315.1:p.Phe58Cys
NM_198965.2:c.173T>G MANE Select	NP_945316.1:p.Phe58Cys
NM_198966.2:c.173T>G	NP_945317.1:p.Phe58Cys
NM_002820.3:c.173T>G	NP_002811.1:p.Phe58Cys