Canonical Allele Identifier: CA3298272

Gene: CARTPT

Linked Data

• dbSNP Id: rs780919254
• ExAC: 5:71015201 C / T
• gnomAD v2: 5-71015201-C-T
• gnomAD v3: 5-71719374-C-T
• gnomAD v4: 5-71719374-C-T
• MyVariant Identifiers: chr5:g.71015201C>T (hg19) ; chr5:g.71719374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719374C>T , CM000667.2:g.71719374C>T	GRCh38
NC_000005.9:g.71015201C>T , CM000667.1:g.71015201C>T	GRCh37
NC_000005.8:g.71050957C>T	NCBI36
NG_015988.1:g.5212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.81C>T MANE Select	ENSP00000296777.4:p.Ala27=
ENST00000296777.4:c.81C>T	ENSP00000296777.4:p.Ala27=
NM_004291.3:c.81C>T	NP_004282.1:p.Ala27=
NM_004291.4:c.81C>T MANE Select	NP_004282.1:p.Ala27=