Canonical Allele Identifier: CA2674169330
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719590-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719590C>A , CM000667.2:g.71719590C>A GRCh38
NC_000005.9:g.71015417C>A , CM000667.1:g.71015417C>A GRCh37
NC_000005.8:g.71051173C>A NCBI36
NG_015988.1:g.5428C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296777.5:c.159+138C>A MANE Select ENSP00000296777.4:n.159+138C>A
ENST00000296777.4:c.159+138C>A ENSP00000296777.4:n.159+138C>A
ENST00000513096.1:n.12C>A
NM_004291.3:c.159+138C>A NP_004282.1:n.159+138C>A
NM_004291.4:c.159+138C>A MANE Select NP_004282.1:n.159+138C>A