Canonical Allele Identifier: CA2674169395
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719637-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719637T>A , CM000667.2:g.71719637T>A GRCh38
NC_000005.9:g.71015464T>A , CM000667.1:g.71015464T>A GRCh37
NC_000005.8:g.71051220T>A NCBI36
NG_015988.1:g.5475T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.159+185T>A MANE Select ENSP00000296777.4:n.159+185T>A
ENST00000296777.4:c.159+185T>A ENSP00000296777.4:n.159+185T>A
ENST00000513096.1:n.59T>A
NM_004291.3:c.159+185T>A NP_004282.1:n.159+185T>A
NM_004291.4:c.159+185T>A MANE Select NP_004282.1:n.159+185T>A