Canonical Allele Identifier: CA99035518
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs892961279
gnomAD v3: 4-70642597-T-A
gnomAD v4: 4-70642597-T-A
MyVariant Identifiers: chr4:g.71508314T>A (hg19) chr4:g.70642597T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70642597T>A , CM000666.2:g.70642597T>A GRCh38
NC_000004.11:g.71508314T>A , CM000666.1:g.71508314T>A GRCh37
NC_000004.10:g.71727178T>A NCBI36
NG_013024.1:g.18854T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.1171T>A MANE Select ENSP00000379383.4:p.Tyr391Asn
ENST00000396073.3:c.1171T>A ENSP00000379383.3:p.Tyr391Asn
ENST00000472903.5:n.99+4754T>A
NM_031889.2:c.1171T>A NP_114095.2:p.Tyr391Asn
XM_006714056.2:c.1171T>A XP_006714119.1:p.Tyr391Asn
XM_006714056.4:c.1171T>A XP_006714119.1:p.Tyr391Asn
NM_001368133.1:c.517T>A NP_001355062.1:p.Tyr173Asn
NM_031889.3:c.1171T>A MANE Select NP_114095.2:p.Tyr391Asn
Search 100 bp 5'
Search 100 bp 3'