Canonical Allele Identifier: CA379724723

Gene: PTH

Linked Data

• MyVariant Identifiers: chr11:g.13514146C>A (hg19) ; chr11:g.13492599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492599C>A , CM000673.2:g.13492599C>A	GRCh38
NC_000011.9:g.13514146C>A , CM000673.1:g.13514146C>A	GRCh37
NC_000011.8:g.13470722C>A	NCBI36
NG_008962.1:g.8422G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000282091.6:c.154G>T MANE Select	ENSP00000282091.1:p.Val52Leu
ENST00000282091.5:c.154G>T	ENSP00000282091.1:p.Val52Leu
ENST00000529816.1:c.154G>T	ENSP00000433208.1:p.Val52Leu
NM_000315.2:c.154G>T	NP_000306.1:p.Val52Leu
NM_000315.3:c.154G>T	NP_000306.1:p.Val52Leu
NM_001316352.1:c.250G>T	NP_001303281.1:p.Val84Leu
NM_000315.4:c.154G>T MANE Select	NP_000306.1:p.Val52Leu
NM_001316352.2:c.250G>T	NP_001303281.1:p.Val84Leu