Canonical Allele Identifier: CA1528949281
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1735835399
gnomAD v4: 5-14871669-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871669G>C , CM000667.2:g.14871669G>C GRCh38
NC_000005.9:g.14871778G>C , CM000667.1:g.14871778G>C GRCh37
NC_000005.8:g.14924778G>C NCBI36
NG_008273.1:g.5110C>G
NG_008273.2:g.5117C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-222C>G MANE Select ENSP00000284268.6:n.-222C>G
ENST00000284268.6:c.-222C>G ENSP00000284268.6:n.-222C>G
ENST00000505140.1:c.-222C>G ENSP00000426332.1:n.-222C>G
NM_054027.4:c.-222C>G NP_473368.1:n.-222C>G
XM_011514067.1:c.-222C>G XP_011512369.1:n.-222C>G
NM_054027.5:c.-222C>G NP_473368.1:n.-222C>G
NM_054027.6:c.-222C>G MANE Select NP_473368.1:n.-222C>G
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