Canonical Allele Identifier: CA3298254
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs79443105
ExAC: 5:71015109 A / T
gnomAD v2: 5-71015109-A-T
gnomAD v3: 5-71719282-A-T
gnomAD v4: 5-71719282-A-T
MyVariant Identifiers: chr5:g.71015109A>T (hg19) chr5:g.71719282A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719282A>T , CM000667.2:g.71719282A>T GRCh38
NC_000005.9:g.71015109A>T , CM000667.1:g.71015109A>T GRCh37
NC_000005.8:g.71050865A>T NCBI36
NG_015988.1:g.5120A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.-12A>T MANE Select ENSP00000296777.4:n.-12A>T
ENST00000296777.4:c.-12A>T ENSP00000296777.4:n.-12A>T
NM_004291.3:c.-12A>T NP_004282.1:n.-12A>T
NM_004291.4:c.-12A>T MANE Select NP_004282.1:n.-12A>T
Search 100 bp 5'
Search 100 bp 3'