Canonical Allele Identifier: CA575161385
Gene: TMEM248 HGNC NCBI

Linked Data

dbSNP Id: rs4718428
gnomAD v2: 7-66421446-T-A
gnomAD v3: 7-66956459-T-A
gnomAD v4: 7-66956459-T-A
MyVariant Identifiers: chr7:g.66421446T>A (hg19) chr7:g.66956459T>A (hg38)
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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
Search 100 bp 5'
Search 100 bp 3'