Canonical Allele Identifier: CA379724596

Gene: PTH

Linked Data

• dbSNP Id: rs1396530954
• gnomAD v2: 11-13514085-A-C
• gnomAD v4: 11-13492538-A-C
• MyVariant Identifiers: chr11:g.13514085A>C (hg19) ; chr11:g.13492538A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492538A>C , CM000673.2:g.13492538A>C	GRCh38
NC_000011.9:g.13514085A>C , CM000673.1:g.13514085A>C	GRCh37
NC_000011.8:g.13470661A>C	NCBI36
NG_008962.1:g.8483T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282091.6:c.215T>G MANE Select	ENSP00000282091.1:p.Leu72Arg
ENST00000282091.5:c.215T>G	ENSP00000282091.1:p.Leu72Arg
ENST00000529816.1:c.215T>G	ENSP00000433208.1:p.Leu72Arg
NM_000315.2:c.215T>G	NP_000306.1:p.Leu72Arg
NM_000315.3:c.215T>G	NP_000306.1:p.Leu72Arg
NM_001316352.1:c.311T>G	NP_001303281.1:p.Leu104Arg
NM_000315.4:c.215T>G MANE Select	NP_000306.1:p.Leu72Arg
NM_001316352.2:c.311T>G	NP_001303281.1:p.Leu104Arg