Canonical Allele Identifier: CA379724711

Gene: PTH

Linked Data

• dbSNP Id: rs2134093056
• COSMIC: COSM3445576
• MyVariant Identifiers: chr11:g.13514139C>T (hg19) ; chr11:g.13492592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492592C>T , CM000673.2:g.13492592C>T	GRCh38
NC_000011.9:g.13514139C>T , CM000673.1:g.13514139C>T	GRCh37
NC_000011.8:g.13470715C>T	NCBI36
NG_008962.1:g.8429G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000282091.6:c.161G>A MANE Select	ENSP00000282091.1:p.Trp54Ter
ENST00000282091.5:c.161G>A	ENSP00000282091.1:p.Trp54Ter
ENST00000529816.1:c.161G>A	ENSP00000433208.1:p.Trp54Ter
NM_000315.2:c.161G>A	NP_000306.1:p.Trp54Ter
NM_000315.3:c.161G>A	NP_000306.1:p.Trp54Ter
NM_001316352.1:c.257G>A	NP_001303281.1:p.Trp86Ter
NM_000315.4:c.161G>A MANE Select	NP_000306.1:p.Trp54Ter
NM_001316352.2:c.257G>A	NP_001303281.1:p.Trp86Ter