Canonical Allele Identifier: CA443295565
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716831G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716722G>C , CM000667.2:g.14716722G>C GRCh38
NC_000005.9:g.14716831G>C , CM000667.1:g.14716831G>C GRCh37
NC_000005.8:g.14769831G>C NCBI36
NG_008273.1:g.160057C>G
NG_008273.2:g.160064C>G
NG_051625.1:g.60929G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1125C>G MANE Select ENSP00000284268.6:p.Ser375=
ENST00000284268.6:c.1125C>G ENSP00000284268.6:p.Ser375=
ENST00000502585.1:n.367C>G
NM_054027.4:c.1125C>G NP_473368.1:p.Ser375=
NM_054027.5:c.1125C>G NP_473368.1:p.Ser375=
XM_017009644.2:c.1041C>G XP_016865133.1:p.Ser347=
NM_054027.6:c.1125C>G MANE Select NP_473368.1:p.Ser375=
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