Canonical Allele Identifier: CA114769892
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1052716152
gnomAD v2: 5-14871789-A-C
gnomAD v3: 5-14871680-A-C
gnomAD v4: 5-14871680-A-C
MyVariant Identifiers: chr5:g.14871789A>C (hg19) chr5:g.14871680A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871680A>C , CM000667.2:g.14871680A>C GRCh38
NC_000005.9:g.14871789A>C , CM000667.1:g.14871789A>C GRCh37
NC_000005.8:g.14924789A>C NCBI36
NG_008273.1:g.5099T>G
NG_008273.2:g.5106T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-233T>G MANE Select ENSP00000284268.6:n.-233T>G
ENST00000284268.6:c.-233T>G ENSP00000284268.6:n.-233T>G
ENST00000505140.1:c.-233T>G ENSP00000426332.1:n.-233T>G
NM_054027.4:c.-233T>G NP_473368.1:n.-233T>G
XM_011514067.1:c.-233T>G XP_011512369.1:n.-233T>G
NM_054027.5:c.-233T>G NP_473368.1:n.-233T>G
NM_054027.6:c.-233T>G MANE Select NP_473368.1:n.-233T>G
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