Canonical Allele Identifier: CA114720358
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs141431036
gnomAD v2: 5-14717036-C-T
gnomAD v3: 5-14716927-C-T
gnomAD v4: 5-14716927-C-T
MyVariant Identifiers: chr5:g.14717036C>T (hg19) chr5:g.14716927C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716927C>T , CM000667.2:g.14716927C>T GRCh38
NC_000005.9:g.14717036C>T , CM000667.1:g.14717036C>T GRCh37
NC_000005.8:g.14770036C>T NCBI36
NG_008273.1:g.159852G>A
NG_008273.2:g.159859G>A
NG_051625.1:g.61134C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-92G>A MANE Select ENSP00000284268.6:n.1012-92G>A
ENST00000284268.6:c.1012-92G>A ENSP00000284268.6:n.1012-92G>A
ENST00000502585.1:n.162G>A
NM_054027.4:c.1012-92G>A NP_473368.1:n.1012-92G>A
NM_054027.5:c.1012-92G>A NP_473368.1:n.1012-92G>A
XM_017009644.2:c.928-92G>A XP_016865133.1:n.928-92G>A
NM_054027.6:c.1012-92G>A MANE Select NP_473368.1:n.1012-92G>A
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