Canonical Allele Identifier: CA6494986

Gene: PTHLH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.27969552T>A , CM000674.2:g.27969552T>A	GRCh38
NC_000012.11:g.28122485T>A , CM000674.1:g.28122485T>A	GRCh37
NC_000012.10:g.28013752T>A	NCBI36
NG_023197.1:g.7432A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198965.2:c.-22-36A>T MANE Select	NP_945316.1:n.-22-36A>T
ENST00000545234.6:c.-22-36A>T MANE Select	ENSP00000441765.1:n.-22-36A>T
NM_002820.2:c.-22-36A>T	NP_002811.1:n.-22-36A>T
NM_002820.3:c.-22-36A>T	NP_002811.1:n.-22-36A>T
NM_198964.1:c.-22-36A>T	NP_945315.1:n.-22-36A>T
NM_198964.2:c.-22-36A>T	NP_945315.1:n.-22-36A>T
NM_198965.1:c.-22-36A>T	NP_945316.1:n.-22-36A>T
NM_198966.1:c.-22-36A>T	NP_945317.1:n.-22-36A>T
NM_198966.2:c.-22-36A>T	NP_945317.1:n.-22-36A>T
ENST00000201015.8:c.-22-36A>T	ENSP00000201015.4:n.-22-36A>T
ENST00000395868.7:c.-22-36A>T	ENSP00000379209.3:n.-22-36A>T
ENST00000395872.5:c.-22-36A>T	ENSP00000379213.1:n.-22-36A>T
ENST00000534890.1:c.3-36A>T	ENSP00000445157.1:n.3-36A>T
ENST00000535992.5:c.-22-36A>T	ENSP00000440613.1:n.-22-36A>T
ENST00000539239.5:c.-58A>T	ENSP00000441571.1:n.-58A>T
ENST00000542963.1:c.-22-36A>T	ENSP00000444519.1:n.-22-36A>T
ENST00000545234.5:c.-22-36A>T	ENSP00000441765.1:n.-22-36A>T
XM_011520774.1:c.-22-36A>T	XP_011519076.1:n.-22-36A>T
XM_011520774.2:c.-22-36A>T	XP_011519076.1:n.-22-36A>T
XM_011520775.1:c.-22-36A>T	XP_011519077.1:n.-22-36A>T
XM_011520775.2:c.-22-36A>T	XP_011519077.1:n.-22-36A>T
XM_017019675.1:c.-22-36A>T	XP_016875164.1:n.-22-36A>T