Canonical Allele Identifier: CA2674169323
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719583-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719583G>T , CM000667.2:g.71719583G>T GRCh38
NC_000005.9:g.71015410G>T , CM000667.1:g.71015410G>T GRCh37
NC_000005.8:g.71051166G>T NCBI36
NG_015988.1:g.5421G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296777.5:c.159+131G>T MANE Select ENSP00000296777.4:n.159+131G>T
ENST00000296777.4:c.159+131G>T ENSP00000296777.4:n.159+131G>T
ENST00000513096.1:n.5G>T
NM_004291.3:c.159+131G>T NP_004282.1:n.159+131G>T
NM_004291.4:c.159+131G>T MANE Select NP_004282.1:n.159+131G>T