Canonical Allele Identifier: CA443295587
Gene: ANKH HGNC NCBI

Linked Data

COSMIC: COSM3612135
MyVariant Identifiers: chr5:g.14716861T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716752T>C , CM000667.2:g.14716752T>C GRCh38
NC_000005.9:g.14716861T>C , CM000667.1:g.14716861T>C GRCh37
NC_000005.8:g.14769861T>C NCBI36
NG_008273.1:g.160027A>G
NG_008273.2:g.160034A>G
NG_051625.1:g.60959T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1095A>G MANE Select ENSP00000284268.6:p.Glu365=
ENST00000284268.6:c.1095A>G ENSP00000284268.6:p.Glu365=
ENST00000502585.1:n.337A>G
NM_054027.4:c.1095A>G NP_473368.1:p.Glu365=
NM_054027.5:c.1095A>G NP_473368.1:p.Glu365=
XM_017009644.2:c.1011A>G XP_016865133.1:p.Glu337=
NM_054027.6:c.1095A>G MANE Select NP_473368.1:p.Glu365=
Search 100 bp 5'
Search 100 bp 3'