Canonical Allele Identifier: CA359245351
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14716872C>G (hg19) chr5:g.14716763C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716763C>G , CM000667.2:g.14716763C>G GRCh38
NC_000005.9:g.14716872C>G , CM000667.1:g.14716872C>G GRCh37
NC_000005.8:g.14769872C>G NCBI36
NG_008273.1:g.160016G>C
NG_008273.2:g.160023G>C
NG_051625.1:g.60970C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1084G>C MANE Select ENSP00000284268.6:p.Ala362Pro
ENST00000284268.6:c.1084G>C ENSP00000284268.6:p.Ala362Pro
ENST00000502585.1:n.326G>C
NM_054027.4:c.1084G>C NP_473368.1:p.Ala362Pro
NM_054027.5:c.1084G>C NP_473368.1:p.Ala362Pro
XM_017009644.2:c.1000G>C XP_016865133.1:p.Ala334Pro
NM_054027.6:c.1084G>C MANE Select NP_473368.1:p.Ala362Pro
Search 100 bp 5'
Search 100 bp 3'