Canonical Allele Identifier: CA473263505

Gene: PTH

Linked Data

• gnomAD v4: 11-13492539-G-A
• MyVariant Identifiers: chr11:g.13514086G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492539G>A , CM000673.2:g.13492539G>A	GRCh38
NC_000011.9:g.13514086G>A , CM000673.1:g.13514086G>A	GRCh37
NC_000011.8:g.13470662G>A	NCBI36
NG_008962.1:g.8482C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282091.6:c.214C>T MANE Select	ENSP00000282091.1:p.Leu72=
ENST00000282091.5:c.214C>T	ENSP00000282091.1:p.Leu72=
ENST00000529816.1:c.214C>T	ENSP00000433208.1:p.Leu72=
NM_000315.2:c.214C>T	NP_000306.1:p.Leu72=
NM_000315.3:c.214C>T	NP_000306.1:p.Leu72=
NM_001316352.1:c.310C>T	NP_001303281.1:p.Leu104=
NM_000315.4:c.214C>T MANE Select	NP_000306.1:p.Leu72=
NM_001316352.2:c.310C>T	NP_001303281.1:p.Leu104=