Canonical Allele Identifier: CA360104206
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719309-G-T
MyVariant Identifiers: chr5:g.71015136G>T (hg19) chr5:g.71719309G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719309G>T , CM000667.2:g.71719309G>T GRCh38
NC_000005.9:g.71015136G>T , CM000667.1:g.71015136G>T GRCh37
NC_000005.8:g.71050892G>T NCBI36
NG_015988.1:g.5147G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.16G>T MANE Select ENSP00000296777.4:p.Val6Leu
ENST00000296777.4:c.16G>T ENSP00000296777.4:p.Val6Leu
NM_004291.3:c.16G>T NP_004282.1:p.Val6Leu
NM_004291.4:c.16G>T MANE Select NP_004282.1:p.Val6Leu
Search 100 bp 5'
Search 100 bp 3'