Canonical Allele Identifier: CA359286050
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14871492A>G (hg19) chr5:g.14871383A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871383A>G , CM000667.2:g.14871383A>G GRCh38
NC_000005.9:g.14871492A>G , CM000667.1:g.14871492A>G GRCh37
NC_000005.8:g.14924492A>G NCBI36
NG_008273.1:g.5396T>C
NG_008273.2:g.5403T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.65T>C MANE Select ENSP00000284268.6:p.Ile22Thr
ENST00000284268.6:c.65T>C ENSP00000284268.6:p.Ile22Thr
ENST00000505140.1:c.65T>C ENSP00000426332.1:p.Ile22Thr
ENST00000513115.1:n.90T>C
NM_054027.4:c.65T>C NP_473368.1:p.Ile22Thr
XM_011514067.1:c.65T>C XP_011512369.1:p.Ile22Thr
NM_054027.5:c.65T>C NP_473368.1:p.Ile22Thr
NM_054027.6:c.65T>C MANE Select NP_473368.1:p.Ile22Thr
Search 100 bp 5'
Search 100 bp 3'