Canonical Allele Identifier: CA1528892406
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1738363795
gnomAD v4: 5-14741766-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741766C>G , CM000667.2:g.14741766C>G GRCh38
NC_000005.9:g.14741875C>G , CM000667.1:g.14741875C>G GRCh37
NC_000005.8:g.14794875C>G NCBI36
NG_008273.1:g.135013G>C
NG_008273.2:g.135020G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1011+61G>C MANE Select ENSP00000284268.6:n.1011+61G>C
ENST00000284268.6:c.1011+61G>C ENSP00000284268.6:n.1011+61G>C
ENST00000503939.5:n.523+61G>C
ENST00000515517.1:n.306G>C
NM_054027.4:c.1011+61G>C NP_473368.1:n.1011+61G>C
XM_011514067.1:c.1011+61G>C XP_011512369.1:n.1011+61G>C
NM_054027.5:c.1011+61G>C NP_473368.1:n.1011+61G>C
XM_017009644.2:c.927+61G>C XP_016865133.1:n.927+61G>C
NM_054027.6:c.1011+61G>C MANE Select NP_473368.1:n.1011+61G>C
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