Canonical Allele Identifier: CA558016062
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1364137148
gnomAD v2: 5-14871744-C-G
gnomAD v3: 5-14871635-C-G
gnomAD v4: 5-14871635-C-G
MyVariant Identifiers: chr5:g.14871744C>G (hg19) chr5:g.14871635C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871635C>G , CM000667.2:g.14871635C>G GRCh38
NC_000005.9:g.14871744C>G , CM000667.1:g.14871744C>G GRCh37
NC_000005.8:g.14924744C>G NCBI36
NG_008273.1:g.5144G>C
NG_008273.2:g.5151G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-188G>C MANE Select ENSP00000284268.6:n.-188G>C
ENST00000284268.6:c.-188G>C ENSP00000284268.6:n.-188G>C
ENST00000505140.1:c.-188G>C ENSP00000426332.1:n.-188G>C
NM_054027.4:c.-188G>C NP_473368.1:n.-188G>C
XM_011514067.1:c.-188G>C XP_011512369.1:n.-188G>C
NM_054027.5:c.-188G>C NP_473368.1:n.-188G>C
NM_054027.6:c.-188G>C MANE Select NP_473368.1:n.-188G>C
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