Canonical Allele Identifier: CA1554416939
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1252826278
gnomAD v4: 5-71719558-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719558G>A , CM000667.2:g.71719558G>A GRCh38
NC_000005.9:g.71015385G>A , CM000667.1:g.71015385G>A GRCh37
NC_000005.8:g.71051141G>A NCBI36
NG_015988.1:g.5396G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.159+106G>A MANE Select ENSP00000296777.4:n.159+106G>A
ENST00000296777.4:c.159+106G>A ENSP00000296777.4:n.159+106G>A
NM_004291.3:c.159+106G>A NP_004282.1:n.159+106G>A
NM_004291.4:c.159+106G>A MANE Select NP_004282.1:n.159+106G>A
Search 100 bp 5'
Search 100 bp 3'