Canonical Allele Identifier: CA2674169435
Gene: CARTPT HGNC NCBI

Linked Data

gnomAD v4: 5-71719662-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719662T>C , CM000667.2:g.71719662T>C GRCh38
NC_000005.9:g.71015489T>C , CM000667.1:g.71015489T>C GRCh37
NC_000005.8:g.71051245T>C NCBI36
NG_015988.1:g.5500T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.159+210T>C MANE Select ENSP00000296777.4:n.159+210T>C
ENST00000296777.4:c.159+210T>C ENSP00000296777.4:n.159+210T>C
ENST00000513096.1:n.84T>C
NM_004291.3:c.159+210T>C NP_004282.1:n.159+210T>C
NM_004291.4:c.159+210T>C MANE Select NP_004282.1:n.159+210T>C
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