Canonical Allele Identifier: CA2674169495
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719692-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719692G>A , CM000667.2:g.71719692G>A GRCh38
NC_000005.9:g.71015519G>A , CM000667.1:g.71015519G>A GRCh37
NC_000005.8:g.71051275G>A NCBI36
NG_015988.1:g.5530G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-188G>A MANE Select ENSP00000296777.4:n.160-188G>A
ENST00000296777.4:c.160-188G>A ENSP00000296777.4:n.160-188G>A
ENST00000513096.1:n.114G>A
NM_004291.3:c.160-188G>A NP_004282.1:n.160-188G>A
NM_004291.4:c.160-188G>A MANE Select NP_004282.1:n.160-188G>A