Canonical Allele Identifier: CA558016060
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1292056231
gnomAD v2: 5-14871728-T-C
gnomAD v3: 5-14871619-T-C
gnomAD v4: 5-14871619-T-C
MyVariant Identifiers: chr5:g.14871728T>C (hg19) chr5:g.14871619T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871619T>C , CM000667.2:g.14871619T>C GRCh38
NC_000005.9:g.14871728T>C , CM000667.1:g.14871728T>C GRCh37
NC_000005.8:g.14924728T>C NCBI36
NG_008273.1:g.5160A>G
NG_008273.2:g.5167A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-172A>G MANE Select ENSP00000284268.6:n.-172A>G
ENST00000284268.6:c.-172A>G ENSP00000284268.6:n.-172A>G
ENST00000505140.1:c.-172A>G ENSP00000426332.1:n.-172A>G
NM_054027.4:c.-172A>G NP_473368.1:n.-172A>G
XM_011514067.1:c.-172A>G XP_011512369.1:n.-172A>G
NM_054027.5:c.-172A>G NP_473368.1:n.-172A>G
NM_054027.6:c.-172A>G MANE Select NP_473368.1:n.-172A>G
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