Canonical Allele Identifier: CA359286114
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1364884467
gnomAD v2: 5-14871525-C-A
gnomAD v3: 5-14871416-C-A
gnomAD v4: 5-14871416-C-A
MyVariant Identifiers: chr5:g.14871525C>A (hg19) chr5:g.14871416C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871416C>A , CM000667.2:g.14871416C>A GRCh38
NC_000005.9:g.14871525C>A , CM000667.1:g.14871525C>A GRCh37
NC_000005.8:g.14924525C>A NCBI36
NG_008273.1:g.5363G>T
NG_008273.2:g.5370G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.32G>T MANE Select ENSP00000284268.6:p.Trp11Leu
ENST00000284268.6:c.32G>T ENSP00000284268.6:p.Trp11Leu
ENST00000505140.1:c.32G>T ENSP00000426332.1:p.Trp11Leu
ENST00000513115.1:n.57G>T
NM_054027.4:c.32G>T NP_473368.1:p.Trp11Leu
XM_011514067.1:c.32G>T XP_011512369.1:p.Trp11Leu
NM_054027.5:c.32G>T NP_473368.1:p.Trp11Leu
NM_054027.6:c.32G>T MANE Select NP_473368.1:p.Trp11Leu
Search 100 bp 5'
Search 100 bp 3'