Canonical Allele Identifier: CA360104434
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719426-G-C
MyVariant Identifiers: chr5:g.71015253G>C (hg19) chr5:g.71719426G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719426G>C , CM000667.2:g.71719426G>C GRCh38
NC_000005.9:g.71015253G>C , CM000667.1:g.71015253G>C GRCh37
NC_000005.8:g.71051009G>C NCBI36
NG_015988.1:g.5264G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.133G>C MANE Select ENSP00000296777.4:p.Asp45His
ENST00000296777.4:c.133G>C ENSP00000296777.4:p.Asp45His
NM_004291.3:c.133G>C NP_004282.1:p.Asp45His
NM_004291.4:c.133G>C MANE Select NP_004282.1:p.Asp45His
Search 100 bp 5'
Search 100 bp 3'