Canonical Allele Identifier: CA2674169315
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719576-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719576C>T , CM000667.2:g.71719576C>T GRCh38
NC_000005.9:g.71015403C>T , CM000667.1:g.71015403C>T GRCh37
NC_000005.8:g.71051159C>T NCBI36
NG_015988.1:g.5414C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.159+124C>T MANE Select ENSP00000296777.4:n.159+124C>T
ENST00000296777.4:c.159+124C>T ENSP00000296777.4:n.159+124C>T
NM_004291.3:c.159+124C>T NP_004282.1:n.159+124C>T
NM_004291.4:c.159+124C>T MANE Select NP_004282.1:n.159+124C>T