Canonical Allele Identifier: CA114769914
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs949728157
gnomAD v3: 5-14871701-A-G
gnomAD v4: 5-14871701-A-G
MyVariant Identifiers: chr5:g.14871810A>G (hg19) chr5:g.14871701A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871701A>G , CM000667.2:g.14871701A>G GRCh38
NC_000005.9:g.14871810A>G , CM000667.1:g.14871810A>G GRCh37
NC_000005.8:g.14924810A>G NCBI36
NG_008273.1:g.5078T>C
NG_008273.2:g.5085T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-254T>C MANE Select ENSP00000284268.6:n.-254T>C
ENST00000284268.6:c.-254T>C ENSP00000284268.6:n.-254T>C
ENST00000505140.1:c.-254T>C ENSP00000426332.1:n.-254T>C
NM_054027.4:c.-254T>C NP_473368.1:n.-254T>C
XM_011514067.1:c.-254T>C XP_011512369.1:n.-254T>C
NM_054027.5:c.-254T>C NP_473368.1:n.-254T>C
NM_054027.6:c.-254T>C MANE Select NP_473368.1:n.-254T>C
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