Canonical Allele Identifier: CA7391503

Gene: TMEM121

Linked Data

• ClinVar Variation Id: 2344789
• ClinVar RCV Id: RCV004184098
• dbSNP Id: rs782152703
• ExAC: 14:105996042 A / C
• gnomAD v2: 14-105996042-A-C
• gnomAD v3: 14-105529705-A-C
• gnomAD v4: 14-105529705-A-C
• MyVariant Identifiers: chr14:g.105996042A>C (hg19) ; chr14:g.105529705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.105529705A>C , CM000676.2:g.105529705A>C	GRCh38
NC_000014.8:g.105996042A>C , CM000676.1:g.105996042A>C	GRCh37
NC_000014.7:g.105067087A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392519.7:c.871A>C MANE Select	ENSP00000376304.2:p.Asn291His
ENST00000392519.6:c.871A>C	ENSP00000376304.2:p.Asn291His
ENST00000431372.1:c.871A>C	ENSP00000407456.1:p.Asn291His
NM_025268.2:c.871A>C	NP_079544.1:p.Asn291His
XM_005268101.2:c.871A>C	XP_005268158.1:p.Asn291His
XM_006720261.2:c.871A>C	XP_006720324.1:p.Asn291His
XM_011537185.1:c.871A>C	XP_011535487.1:p.Asn291His
XM_011537186.1:c.871A>C	XP_011535488.1:p.Asn291His
NM_001331238.1:c.871A>C	NP_001318167.1:p.Asn291His
NM_025268.3:c.871A>C	NP_079544.1:p.Asn291His
XM_006720261.3:c.871A>C	XP_006720324.1:p.Asn291His
NM_025268.4:c.871A>C MANE Select	NP_079544.1:p.Asn291His
NM_001331238.2:c.871A>C	NP_001318167.1:p.Asn291His