Canonical Allele Identifier: CA360104492
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719450-C-G
MyVariant Identifiers: chr5:g.71015277C>G (hg19) chr5:g.71719450C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719450C>G , CM000667.2:g.71719450C>G GRCh38
NC_000005.9:g.71015277C>G , CM000667.1:g.71015277C>G GRCh37
NC_000005.8:g.71051033C>G NCBI36
NG_015988.1:g.5288C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.157C>G MANE Select ENSP00000296777.4:p.Leu53Val
ENST00000296777.4:c.157C>G ENSP00000296777.4:p.Leu53Val
NM_004291.3:c.157C>G NP_004282.1:p.Leu53Val
NM_004291.4:c.157C>G MANE Select NP_004282.1:p.Leu53Val
Search 100 bp 5'
Search 100 bp 3'