Canonical Allele Identifier: CA2674169235
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719282-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719282A>G , CM000667.2:g.71719282A>G GRCh38
NC_000005.9:g.71015109A>G , CM000667.1:g.71015109A>G GRCh37
NC_000005.8:g.71050865A>G NCBI36
NG_015988.1:g.5120A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.-12A>G MANE Select ENSP00000296777.4:n.-12A>G
ENST00000296777.4:c.-12A>G ENSP00000296777.4:n.-12A>G
NM_004291.3:c.-12A>G NP_004282.1:n.-12A>G
NM_004291.4:c.-12A>G MANE Select NP_004282.1:n.-12A>G