Canonical Allele Identifier: CA3208947
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs369592087
ExAC: 5:14716993 G / A
gnomAD v2: 5-14716993-G-A
gnomAD v3: 5-14716884-G-A
gnomAD v4: 5-14716884-G-A
MyVariant Identifiers: chr5:g.14716993G>A (hg19) chr5:g.14716884G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14716884G>A , CM000667.2:g.14716884G>A GRCh38
NC_000005.9:g.14716993G>A , CM000667.1:g.14716993G>A GRCh37
NC_000005.8:g.14769993G>A NCBI36
NG_008273.1:g.159895C>T
NG_008273.2:g.159902C>T
NG_051625.1:g.61091G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-49C>T MANE Select ENSP00000284268.6:n.1012-49C>T
ENST00000284268.6:c.1012-49C>T ENSP00000284268.6:n.1012-49C>T
ENST00000502585.1:n.205C>T
NM_054027.4:c.1012-49C>T NP_473368.1:n.1012-49C>T
NM_054027.5:c.1012-49C>T NP_473368.1:n.1012-49C>T
XM_017009644.2:c.928-49C>T XP_016865133.1:n.928-49C>T
NM_054027.6:c.1012-49C>T MANE Select NP_473368.1:n.1012-49C>T
Search 100 bp 5'
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