Canonical Allele Identifier: CA266602569

Gene: TMEM121

Linked Data

• ClinVar Variation Id: 2606763
• ClinVar RCV Id: RCV004349032
• dbSNP Id: rs1041848641
• gnomAD v4: 14-105529763-C-T
• MyVariant Identifiers: chr14:g.105996100C>T (hg19) ; chr14:g.105529763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105529763C>T , CM000676.2:g.105529763C>T	GRCh38
NC_000014.8:g.105996100C>T , CM000676.1:g.105996100C>T	GRCh37
NC_000014.7:g.105067145C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392519.7:c.929C>T MANE Select	ENSP00000376304.2:p.Ser310Phe
ENST00000392519.6:c.929C>T	ENSP00000376304.2:p.Ser310Phe
ENST00000431372.1:c.929C>T	ENSP00000407456.1:p.Ser310Phe
NM_025268.2:c.929C>T	NP_079544.1:p.Ser310Phe
XM_005268101.2:c.929C>T	XP_005268158.1:p.Ser310Phe
XM_006720261.2:c.929C>T	XP_006720324.1:p.Ser310Phe
XM_011537185.1:c.929C>T	XP_011535487.1:p.Ser310Phe
XM_011537186.1:c.929C>T	XP_011535488.1:p.Ser310Phe
NM_001331238.1:c.929C>T	NP_001318167.1:p.Ser310Phe
NM_025268.3:c.929C>T	NP_079544.1:p.Ser310Phe
XM_006720261.3:c.929C>T	XP_006720324.1:p.Ser310Phe
NM_025268.4:c.929C>T MANE Select	NP_079544.1:p.Ser310Phe
NM_001331238.2:c.929C>T	NP_001318167.1:p.Ser310Phe