Canonical Allele Identifier: CA359245386
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716888G>C (hg19) chr5:g.14716779G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716779G>C , CM000667.2:g.14716779G>C GRCh38
NC_000005.9:g.14716888G>C , CM000667.1:g.14716888G>C GRCh37
NC_000005.8:g.14769888G>C NCBI36
NG_008273.1:g.160000C>G
NG_008273.2:g.160007C>G
NG_051625.1:g.60986G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1068C>G MANE Select ENSP00000284268.6:p.Ile356Met
ENST00000284268.6:c.1068C>G ENSP00000284268.6:p.Ile356Met
ENST00000502585.1:n.310C>G
NM_054027.4:c.1068C>G NP_473368.1:p.Ile356Met
NM_054027.5:c.1068C>G NP_473368.1:p.Ile356Met
XM_017009644.2:c.984C>G XP_016865133.1:p.Ile328Met
NM_054027.6:c.1068C>G MANE Select NP_473368.1:p.Ile356Met
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