Canonical Allele Identifier: CA114769910
Gene: ANKH HGNC NCBI

Linked Data

ClinVar Variation Id: 907697
ClinVar RCV Id: RCV001157716 RCV001157717
dbSNP Id: rs530246274
gnomAD v2: 5-14871808-G-A
gnomAD v3: 5-14871699-G-A
gnomAD v4: 5-14871699-G-A
MyVariant Identifiers: chr5:g.14871808G>A (hg19) chr5:g.14871699G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871699G>A , CM000667.2:g.14871699G>A GRCh38
NC_000005.9:g.14871808G>A , CM000667.1:g.14871808G>A GRCh37
NC_000005.8:g.14924808G>A NCBI36
NG_008273.1:g.5080C>T
NG_008273.2:g.5087C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-252C>T MANE Select ENSP00000284268.6:n.-252C>T
ENST00000284268.6:c.-252C>T ENSP00000284268.6:n.-252C>T
ENST00000505140.1:c.-252C>T ENSP00000426332.1:n.-252C>T
NM_054027.4:c.-252C>T NP_473368.1:n.-252C>T
XM_011514067.1:c.-252C>T XP_011512369.1:n.-252C>T
NM_054027.5:c.-252C>T NP_473368.1:n.-252C>T
NM_054027.6:c.-252C>T MANE Select NP_473368.1:n.-252C>T
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