Canonical Allele Identifier: CA3209283
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs776943535
ExAC: 5:14871596 G / A
gnomAD v2: 5-14871596-G-A
gnomAD v4: 5-14871487-G-A
MyVariant Identifiers: chr5:g.14871596G>A (hg19) chr5:g.14871487G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871487G>A , CM000667.2:g.14871487G>A GRCh38
NC_000005.9:g.14871596G>A , CM000667.1:g.14871596G>A GRCh37
NC_000005.8:g.14924596G>A NCBI36
NG_008273.1:g.5292C>T
NG_008273.2:g.5299C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-40C>T MANE Select ENSP00000284268.6:n.-40C>T
ENST00000284268.6:c.-40C>T ENSP00000284268.6:n.-40C>T
ENST00000505140.1:c.-40C>T ENSP00000426332.1:n.-40C>T
NM_054027.4:c.-40C>T NP_473368.1:n.-40C>T
XM_011514067.1:c.-40C>T XP_011512369.1:n.-40C>T
NM_054027.5:c.-40C>T NP_473368.1:n.-40C>T
NM_054027.6:c.-40C>T MANE Select NP_473368.1:n.-40C>T
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