Canonical Allele Identifier: CA2674169497
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719693-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719693A>G , CM000667.2:g.71719693A>G GRCh38
NC_000005.9:g.71015520A>G , CM000667.1:g.71015520A>G GRCh37
NC_000005.8:g.71051276A>G NCBI36
NG_015988.1:g.5531A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296777.5:c.160-187A>G MANE Select ENSP00000296777.4:n.160-187A>G
ENST00000296777.4:c.160-187A>G ENSP00000296777.4:n.160-187A>G
ENST00000513096.1:n.115A>G
NM_004291.3:c.160-187A>G NP_004282.1:n.160-187A>G
NM_004291.4:c.160-187A>G MANE Select NP_004282.1:n.160-187A>G