Canonical Allele Identifier: CA1466835975
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs1577966585
gnomAD v3: 4-70628825-C-A
gnomAD v4: 4-70628825-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70628825C>A , CM000666.2:g.70628825C>A GRCh38
NC_000004.11:g.71494542C>A , CM000666.1:g.71494542C>A GRCh37
NG_013024.1:g.5082C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.-200C>A MANE Select ENSP00000379383.4:n.-200C>A
ENST00000396073.3:c.-200C>A ENSP00000379383.3:n.-200C>A
NM_031889.2:c.-200C>A NP_114095.2:n.-200C>A
XM_006714056.4:c.-676C>A XP_006714119.1:n.-676C>A
NM_031889.3:c.-200C>A MANE Select NP_114095.2:n.-200C>A
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