Canonical Allele Identifier: CA443289823
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14769277A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14769168A>C , CM000667.2:g.14769168A>C GRCh38
NC_000005.9:g.14769277A>C , CM000667.1:g.14769277A>C GRCh37
NC_000005.8:g.14822277A>C NCBI36
NG_008273.1:g.107611T>G
NG_008273.2:g.107618T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.120T>G MANE Select ENSP00000284268.6:p.Ala40=
ENST00000284268.6:c.120T>G ENSP00000284268.6:p.Ala40=
ENST00000503389.1:n.126T>G
ENST00000513115.1:n.145T>G
NM_054027.4:c.120T>G NP_473368.1:p.Ala40=
XM_011514067.1:c.120T>G XP_011512369.1:p.Ala40=
NM_054027.5:c.120T>G NP_473368.1:p.Ala40=
XM_017009644.2:c.36T>G XP_016865133.1:p.Ala12=
NM_054027.6:c.120T>G MANE Select NP_473368.1:p.Ala40=
Search 100 bp 5'
Search 100 bp 3'