Canonical Allele Identifier: CA427495602
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs2104287809
MyVariant Identifiers: chr2:g.96920707C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254969C>T , CM000664.2:g.96254969C>T GRCh38
NC_000002.11:g.96920707C>T , CM000664.1:g.96920707C>T GRCh37
NC_000002.10:g.96284434C>T NCBI36
NG_027695.1:g.16045G>A , LRG_528:g.16045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.273G>A MANE Select ENSP00000258439.3:p.Leu91=
ENST00000258439.7:c.273G>A ENSP00000258439.2:p.Leu91=
ENST00000432959.1:c.273G>A ENSP00000416660.1:p.Leu91=
ENST00000435268.1:c.21G>A ENSP00000411810.1:p.Leu7=
NM_001193304.2:c.273G>A NP_001180233.1:p.Leu91=
NM_017849.3:c.273G>A , LRG_528t1:c.273G>A NP_060319.1:p.Leu91=
XM_017004450.1:c.-646G>A XP_016859939.1:n.-646G>A
XM_017004452.1:c.21G>A XP_016859941.1:p.Leu7=
NM_001193304.3:c.273G>A NP_001180233.1:p.Leu91=
NM_017849.4:c.273G>A MANE Select NP_060319.1:p.Leu91=