Canonical Allele Identifier: CA3298259
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs763758600
ExAC: 5:71015147 G / A
gnomAD v2: 5-71015147-G-A
gnomAD v4: 5-71719320-G-A
MyVariant Identifiers: chr5:g.71015147G>A (hg19) chr5:g.71719320G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719320G>A , CM000667.2:g.71719320G>A GRCh38
NC_000005.9:g.71015147G>A , CM000667.1:g.71015147G>A GRCh37
NC_000005.8:g.71050903G>A NCBI36
NG_015988.1:g.5158G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.27G>A MANE Select ENSP00000296777.4:p.Leu9=
ENST00000296777.4:c.27G>A ENSP00000296777.4:p.Leu9=
NM_004291.3:c.27G>A NP_004282.1:p.Leu9=
NM_004291.4:c.27G>A MANE Select NP_004282.1:p.Leu9=
Search 100 bp 5'
Search 100 bp 3'