Canonical Allele Identifier: CA805426522
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1304457269
gnomAD v4: 5-14871524-C-T
MyVariant Identifiers: chr5:g.14871633C>T (hg19) chr5:g.14871524C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871524C>T , CM000667.2:g.14871524C>T GRCh38
NC_000005.9:g.14871633C>T , CM000667.1:g.14871633C>T GRCh37
NC_000005.8:g.14924633C>T NCBI36
NG_008273.1:g.5255G>A
NG_008273.2:g.5262G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-77G>A MANE Select ENSP00000284268.6:n.-77G>A
ENST00000284268.6:c.-77G>A ENSP00000284268.6:n.-77G>A
ENST00000505140.1:c.-77G>A ENSP00000426332.1:n.-77G>A
NM_054027.4:c.-77G>A NP_473368.1:n.-77G>A
XM_011514067.1:c.-77G>A XP_011512369.1:n.-77G>A
NM_054027.5:c.-77G>A NP_473368.1:n.-77G>A
NM_054027.6:c.-77G>A MANE Select NP_473368.1:n.-77G>A
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