Canonical Allele Identifier: CA558016057
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1350864949
gnomAD v2: 5-14871704-C-T
gnomAD v3: 5-14871595-C-T
gnomAD v4: 5-14871595-C-T
MyVariant Identifiers: chr5:g.14871704C>T (hg19) chr5:g.14871595C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14871595C>T , CM000667.2:g.14871595C>T GRCh38
NC_000005.9:g.14871704C>T , CM000667.1:g.14871704C>T GRCh37
NC_000005.8:g.14924704C>T NCBI36
NG_008273.1:g.5184G>A
NG_008273.2:g.5191G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.-148G>A MANE Select ENSP00000284268.6:n.-148G>A
ENST00000284268.6:c.-148G>A ENSP00000284268.6:n.-148G>A
ENST00000505140.1:c.-148G>A ENSP00000426332.1:n.-148G>A
NM_054027.4:c.-148G>A NP_473368.1:n.-148G>A
XM_011514067.1:c.-148G>A XP_011512369.1:n.-148G>A
NM_054027.5:c.-148G>A NP_473368.1:n.-148G>A
NM_054027.6:c.-148G>A MANE Select NP_473368.1:n.-148G>A
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