Canonical Allele Identifier: CA427807837

Gene: TMEM127

Linked Data

• dbSNP Id: rs1060503974
• gnomAD v4: 2-96253925-G-C
• MyVariant Identifiers: chr2:g.96919663G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253925G>C , CM000664.2:g.96253925G>C	GRCh38
NC_000002.11:g.96919663G>C , CM000664.1:g.96919663G>C	GRCh37
NC_000002.10:g.96283390G>C	NCBI36
NG_027695.1:g.17089C>G , LRG_528:g.17089C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.600C>G MANE Select	ENSP00000258439.3:p.Pro200=
ENST00000258439.7:c.600C>G	ENSP00000258439.2:p.Pro200=
ENST00000432959.1:c.600C>G	ENSP00000416660.1:p.Pro200=
ENST00000435268.1:c.348C>G	ENSP00000411810.1:p.Pro116=
NM_001193304.2:c.600C>G	NP_001180233.1:p.Pro200=
NM_017849.3:c.600C>G , LRG_528t1:c.600C>G	NP_060319.1:p.Pro200=
XM_017004450.1:c.-319C>G	XP_016859939.1:n.-319C>G
XM_017004452.1:c.348C>G	XP_016859941.1:p.Pro116=
NM_001193304.3:c.600C>G	NP_001180233.1:p.Pro200=
NM_017849.4:c.600C>G MANE Select	NP_060319.1:p.Pro200=