Canonical Allele Identifier: CA347652323

Gene: TMEM127

Linked Data

• dbSNP Id: rs373781978
• MyVariant Identifiers: chr2:g.96919695C>A (hg19) ; chr2:g.96253957C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253957C>A , CM000664.2:g.96253957C>A	GRCh38
NC_000002.11:g.96919695C>A , CM000664.1:g.96919695C>A	GRCh37
NC_000002.10:g.96283422C>A	NCBI36
NG_027695.1:g.17057G>T , LRG_528:g.17057G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.568G>T MANE Select	ENSP00000258439.3:p.Ala190Ser
ENST00000258439.7:c.568G>T	ENSP00000258439.2:p.Ala190Ser
ENST00000432959.1:c.568G>T	ENSP00000416660.1:p.Ala190Ser
ENST00000435268.1:c.316G>T	ENSP00000411810.1:p.Ala106Ser
NM_001193304.2:c.568G>T	NP_001180233.1:p.Ala190Ser
NM_017849.3:c.568G>T , LRG_528t1:c.568G>T	NP_060319.1:p.Ala190Ser
XM_017004450.1:c.-351G>T	XP_016859939.1:n.-351G>T
XM_017004452.1:c.316G>T	XP_016859941.1:p.Ala106Ser
NM_001193304.3:c.568G>T	NP_001180233.1:p.Ala190Ser
NM_017849.4:c.568G>T MANE Select	NP_060319.1:p.Ala190Ser