Canonical Allele Identifier: CA2674169485
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719687-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719687T>G , CM000667.2:g.71719687T>G GRCh38
NC_000005.9:g.71015514T>G , CM000667.1:g.71015514T>G GRCh37
NC_000005.8:g.71051270T>G NCBI36
NG_015988.1:g.5525T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-193T>G MANE Select ENSP00000296777.4:n.160-193T>G
ENST00000296777.4:c.160-193T>G ENSP00000296777.4:n.160-193T>G
ENST00000513096.1:n.109T>G
NM_004291.3:c.160-193T>G NP_004282.1:n.160-193T>G
NM_004291.4:c.160-193T>G MANE Select NP_004282.1:n.160-193T>G