Canonical Allele Identifier: CA813669975
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1423559642
gnomAD v3: 5-71719279-A-G
gnomAD v4: 5-71719279-A-G
MyVariant Identifiers: chr5:g.71015106A>G (hg19) chr5:g.71719279A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719279A>G , CM000667.2:g.71719279A>G GRCh38
NC_000005.9:g.71015106A>G , CM000667.1:g.71015106A>G GRCh37
NC_000005.8:g.71050862A>G NCBI36
NG_015988.1:g.5117A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.-15A>G MANE Select ENSP00000296777.4:n.-15A>G
ENST00000296777.4:c.-15A>G ENSP00000296777.4:n.-15A>G
NM_004291.3:c.-15A>G NP_004282.1:n.-15A>G
NM_004291.4:c.-15A>G MANE Select NP_004282.1:n.-15A>G
Search 100 bp 5'
Search 100 bp 3'