Canonical Allele Identifier: CA357840028

Gene: OSTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108650737C>T , CM000666.2:g.108650737C>T	GRCh38
NC_000004.11:g.109571893C>T , CM000666.1:g.109571893C>T	GRCh37
NC_000004.10:g.109791342C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_021227.4:c.82C>T MANE Select	NP_067050.1:p.Pro28Ser
ENST00000361564.9:c.82C>T MANE Select	ENSP00000354676.4:p.Pro28Ser
NM_001267817.1:c.82C>T	NP_001254746.1:p.Pro28Ser
NM_001267817.2:c.82C>T	NP_001254746.1:p.Pro28Ser
NM_001267818.1:c.82C>T	NP_001254747.1:p.Pro28Ser
NM_001267818.2:c.82C>T	NP_001254747.1:p.Pro28Ser
NM_021227.3:c.82C>T	NP_067050.1:p.Pro28Ser
ENST00000361564.8:c.82C>T	ENSP00000354676.4:p.Pro28Ser
ENST00000505745.1:n.105C>T
ENST00000510556.1:n.111C>T
ENST00000512478.2:c.82C>T	ENSP00000426167.2:p.Pro28Ser
ENST00000613215.4:c.82C>T	ENSP00000478564.1:p.Pro28Ser