Canonical Allele Identifier: CA5893167

Gene: PTH

Linked Data

• dbSNP Id: rs572350646
• ExAC: 11:13514045 C / T
• gnomAD v2: 11-13514045-C-T
• gnomAD v3: 11-13492498-C-T
• gnomAD v4: 11-13492498-C-T
• MyVariant Identifiers: chr11:g.13514045C>T (hg19) ; chr11:g.13492498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492498C>T , CM000673.2:g.13492498C>T	GRCh38
NC_000011.9:g.13514045C>T , CM000673.1:g.13514045C>T	GRCh37
NC_000011.8:g.13470621C>T	NCBI36
NG_008962.1:g.8523G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282091.6:c.255G>A MANE Select	ENSP00000282091.1:p.Lys85=
ENST00000282091.5:c.255G>A	ENSP00000282091.1:p.Lys85=
ENST00000529816.1:c.255G>A	ENSP00000433208.1:p.Lys85=
NM_000315.2:c.255G>A	NP_000306.1:p.Lys85=
NM_000315.3:c.255G>A	NP_000306.1:p.Lys85=
NM_001316352.1:c.351G>A	NP_001303281.1:p.Lys117=
NM_000315.4:c.255G>A MANE Select	NP_000306.1:p.Lys85=
NM_001316352.2:c.351G>A	NP_001303281.1:p.Lys117=