Canonical Allele Identifier: CA445021298
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1449230775
gnomAD v4: 5-71719383-C-T
MyVariant Identifiers: chr5:g.71015210C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719383C>T , CM000667.2:g.71719383C>T GRCh38
NC_000005.9:g.71015210C>T , CM000667.1:g.71015210C>T GRCh37
NC_000005.8:g.71050966C>T NCBI36
NG_015988.1:g.5221C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.90C>T MANE Select ENSP00000296777.4:p.Asp30=
ENST00000296777.4:c.90C>T ENSP00000296777.4:p.Asp30=
NM_004291.3:c.90C>T NP_004282.1:p.Asp30=
NM_004291.4:c.90C>T MANE Select NP_004282.1:p.Asp30=
Search 100 bp 5'
Search 100 bp 3'