Canonical Allele Identifier: CA379724620

Gene: PTH

Linked Data

• dbSNP Id: rs1452502191
• gnomAD v3: 11-13492553-G-C
• gnomAD v4: 11-13492553-G-C
• MyVariant Identifiers: chr11:g.13514100G>C (hg19) ; chr11:g.13492553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.13492553G>C , CM000673.2:g.13492553G>C	GRCh38
NC_000011.9:g.13514100G>C , CM000673.1:g.13514100G>C	GRCh37
NC_000011.8:g.13470676G>C	NCBI36
NG_008962.1:g.8468C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282091.6:c.200C>G MANE Select	ENSP00000282091.1:p.Ala67Gly
ENST00000282091.5:c.200C>G	ENSP00000282091.1:p.Ala67Gly
ENST00000529816.1:c.200C>G	ENSP00000433208.1:p.Ala67Gly
NM_000315.2:c.200C>G	NP_000306.1:p.Ala67Gly
NM_000315.3:c.200C>G	NP_000306.1:p.Ala67Gly
NM_001316352.1:c.296C>G	NP_001303281.1:p.Ala99Gly
NM_000315.4:c.200C>G MANE Select	NP_000306.1:p.Ala67Gly
NM_001316352.2:c.296C>G	NP_001303281.1:p.Ala99Gly