Canonical Allele Identifier: CA445021259
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719341-G-T
MyVariant Identifiers: chr5:g.71015168G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719341G>T , CM000667.2:g.71719341G>T GRCh38
NC_000005.9:g.71015168G>T , CM000667.1:g.71015168G>T GRCh37
NC_000005.8:g.71050924G>T NCBI36
NG_015988.1:g.5179G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.48G>T MANE Select ENSP00000296777.4:p.Leu16=
ENST00000296777.4:c.48G>T ENSP00000296777.4:p.Leu16=
NM_004291.3:c.48G>T NP_004282.1:p.Leu16=
NM_004291.4:c.48G>T MANE Select NP_004282.1:p.Leu16=