Canonical Allele Identifier: CA2674169289
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719553-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719553A>T , CM000667.2:g.71719553A>T GRCh38
NC_000005.9:g.71015380A>T , CM000667.1:g.71015380A>T GRCh37
NC_000005.8:g.71051136A>T NCBI36
NG_015988.1:g.5391A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.159+101A>T MANE Select ENSP00000296777.4:n.159+101A>T
ENST00000296777.4:c.159+101A>T ENSP00000296777.4:n.159+101A>T
NM_004291.3:c.159+101A>T NP_004282.1:n.159+101A>T
NM_004291.4:c.159+101A>T MANE Select NP_004282.1:n.159+101A>T