Canonical Allele Identifier: CA2674169478
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719682-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719682G>A , CM000667.2:g.71719682G>A GRCh38
NC_000005.9:g.71015509G>A , CM000667.1:g.71015509G>A GRCh37
NC_000005.8:g.71051265G>A NCBI36
NG_015988.1:g.5520G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.160-198G>A MANE Select ENSP00000296777.4:n.160-198G>A
ENST00000296777.4:c.160-198G>A ENSP00000296777.4:n.160-198G>A
ENST00000513096.1:n.104G>A
NM_004291.3:c.160-198G>A NP_004282.1:n.160-198G>A
NM_004291.4:c.160-198G>A MANE Select NP_004282.1:n.160-198G>A
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