Canonical Allele Identifier: CA114769604
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1022009938
gnomAD v2: 5-14871447-G-C
gnomAD v3: 5-14871338-G-C
gnomAD v4: 5-14871338-G-C
MyVariant Identifiers: chr5:g.14871447G>C (hg19) chr5:g.14871338G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871338G>C , CM000667.2:g.14871338G>C GRCh38
NC_000005.9:g.14871447G>C , CM000667.1:g.14871447G>C GRCh37
NC_000005.8:g.14924447G>C NCBI36
NG_008273.1:g.5441C>G
NG_008273.2:g.5448C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.96+14C>G MANE Select ENSP00000284268.6:n.96+14C>G
ENST00000284268.6:c.96+14C>G ENSP00000284268.6:n.96+14C>G
ENST00000505140.1:c.110C>G ENSP00000426332.1:p.Pro37Arg
ENST00000513115.1:n.121+14C>G
NM_054027.4:c.96+14C>G NP_473368.1:n.96+14C>G
XM_011514067.1:c.96+14C>G XP_011512369.1:n.96+14C>G
NM_054027.5:c.96+14C>G NP_473368.1:n.96+14C>G
NM_054027.6:c.96+14C>G MANE Select NP_473368.1:n.96+14C>G
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