Canonical Allele Identifier: CA359253886
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14769272T>G (hg19) chr5:g.14769163T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14769163T>G , CM000667.2:g.14769163T>G GRCh38
NC_000005.9:g.14769272T>G , CM000667.1:g.14769272T>G GRCh37
NC_000005.8:g.14822272T>G NCBI36
NG_008273.1:g.107616A>C
NG_008273.2:g.107623A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.125A>C MANE Select ENSP00000284268.6:p.Lys42Thr
ENST00000284268.6:c.125A>C ENSP00000284268.6:p.Lys42Thr
ENST00000503389.1:n.131A>C
ENST00000513115.1:n.150A>C
NM_054027.4:c.125A>C NP_473368.1:p.Lys42Thr
XM_011514067.1:c.125A>C XP_011512369.1:p.Lys42Thr
NM_054027.5:c.125A>C NP_473368.1:p.Lys42Thr
XM_017009644.2:c.41A>C XP_016865133.1:p.Lys14Thr
NM_054027.6:c.125A>C MANE Select NP_473368.1:p.Lys42Thr
Search 100 bp 5'
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