Canonical Allele Identifier: CA575161385

Gene: TMEM248

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66956459T>A , CM000669.2:g.66956459T>A	GRCh38
NC_000007.13:g.66421446T>A , CM000669.1:g.66421446T>A	GRCh37
NC_000007.12:g.66058881T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341567.8:c.*937T>A MANE Select	ENSP00000340668.4:n.*937T>A
NM_017994.4:c.*937T>A	NP_060464.1:n.*937T>A
XM_005250482.2:c.*937T>A	XP_005250539.1:n.*937T>A
XM_005250482.4:c.*937T>A	XP_005250539.1:n.*937T>A
XM_024446819.1:c.*937T>A	XP_024302587.1:n.*937T>A
XM_024446820.1:c.*937T>A	XP_024302588.1:n.*937T>A
XM_024446821.1:c.*937T>A	XP_024302589.1:n.*937T>A
XM_024446822.1:c.*937T>A	XP_024302590.1:n.*937T>A
NM_017994.5:c.*937T>A MANE Select	NP_060464.1:n.*937T>A