Canonical Allele Identifier: CA1073456478
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1737493172
gnomAD v3: 5-14717013-G-C
gnomAD v4: 5-14717013-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14717013G>C , CM000667.2:g.14717013G>C GRCh38
NC_000005.9:g.14717122G>C , CM000667.1:g.14717122G>C GRCh37
NC_000005.8:g.14770122G>C NCBI36
NG_008273.1:g.159766C>G
NG_008273.2:g.159773C>G
NG_051625.1:g.61220G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-178C>G MANE Select ENSP00000284268.6:n.1012-178C>G
ENST00000284268.6:c.1012-178C>G ENSP00000284268.6:n.1012-178C>G
ENST00000502585.1:n.76C>G
NM_054027.4:c.1012-178C>G NP_473368.1:n.1012-178C>G
NM_054027.5:c.1012-178C>G NP_473368.1:n.1012-178C>G
XM_017009644.2:c.928-178C>G XP_016865133.1:n.928-178C>G
NM_054027.6:c.1012-178C>G MANE Select NP_473368.1:n.1012-178C>G
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