Canonical Allele Identifier: CA813670522
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs536547640
gnomAD v3: 5-71719684-G-T
gnomAD v4: 5-71719684-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719684G>T , CM000667.2:g.71719684G>T GRCh38
NC_000005.9:g.71015511G>T , CM000667.1:g.71015511G>T GRCh37
NC_000005.8:g.71051267G>T NCBI36
NG_015988.1:g.5522G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-196G>T MANE Select ENSP00000296777.4:n.160-196G>T
ENST00000296777.4:c.160-196G>T ENSP00000296777.4:n.160-196G>T
ENST00000513096.1:n.106G>T
NM_004291.3:c.160-196G>T NP_004282.1:n.160-196G>T
NM_004291.4:c.160-196G>T MANE Select NP_004282.1:n.160-196G>T