Canonical Allele Identifier: CA1777399

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1093547
• ClinVar RCV Id: RCV002384607 ; RCV001413737
• dbSNP Id: rs746237736
• ExAC: 2:96931021 C / A
• gnomAD v2: 2-96931021-C-A
• gnomAD v3: 2-96265283-C-A
• gnomAD v4: 2-96265283-C-A
• MyVariant Identifiers: chr2:g.96931021C>A (hg19) ; chr2:g.96265283C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96265283C>A , CM000664.2:g.96265283C>A	GRCh38
NC_000002.11:g.96931021C>A , CM000664.1:g.96931021C>A	GRCh37
NC_000002.10:g.96294748C>A	NCBI36
NG_027695.1:g.5731G>T , LRG_528:g.5731G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.99G>T MANE Select	ENSP00000258439.3:p.Ser33=
ENST00000258439.7:c.99G>T	ENSP00000258439.2:p.Ser33=
ENST00000432959.1:c.99G>T	ENSP00000416660.1:p.Ser33=
NM_001193304.2:c.99G>T	NP_001180233.1:p.Ser33=
NM_017849.3:c.99G>T , LRG_528t1:c.99G>T	NP_060319.1:p.Ser33=
NM_001193304.3:c.99G>T	NP_001180233.1:p.Ser33=
NM_017849.4:c.99G>T MANE Select	NP_060319.1:p.Ser33=