Canonical Allele Identifier: CA2674169484
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719687-T-C

Genomic Alleles

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

Transcript Alleles

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