Canonical Allele Identifier: CA445021229
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1748654034
gnomAD v3: 5-71719315-C-T
gnomAD v4: 5-71719315-C-T
MyVariant Identifiers: chr5:g.71015142C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719315C>T , CM000667.2:g.71719315C>T GRCh38
NC_000005.9:g.71015142C>T , CM000667.1:g.71015142C>T GRCh37
NC_000005.8:g.71050898C>T NCBI36
NG_015988.1:g.5153C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.22C>T MANE Select ENSP00000296777.4:p.Leu8=
ENST00000296777.4:c.22C>T ENSP00000296777.4:p.Leu8=
NM_004291.3:c.22C>T NP_004282.1:p.Leu8=
NM_004291.4:c.22C>T MANE Select NP_004282.1:p.Leu8=
Search 100 bp 5'
Search 100 bp 3'