Canonical Allele Identifier: CA443281674
Gene: ANKH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.14741957G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741848G>T , CM000667.2:g.14741848G>T GRCh38
NC_000005.9:g.14741957G>T , CM000667.1:g.14741957G>T GRCh37
NC_000005.8:g.14794957G>T NCBI36
NG_008273.1:g.134931C>A
NG_008273.2:g.134938C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.990C>A MANE Select ENSP00000284268.6:p.Val330=
ENST00000284268.6:c.990C>A ENSP00000284268.6:p.Val330=
ENST00000503939.5:n.502C>A
ENST00000515517.1:n.224C>A
NM_054027.4:c.990C>A NP_473368.1:p.Val330=
XM_011514067.1:c.990C>A XP_011512369.1:p.Val330=
NM_054027.5:c.990C>A NP_473368.1:p.Val330=
XM_017009644.2:c.906C>A XP_016865133.1:p.Val302=
NM_054027.6:c.990C>A MANE Select NP_473368.1:p.Val330=
Search 100 bp 5'
Search 100 bp 3'