Canonical Allele Identifier: CA557887563
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1393822562
gnomAD v2: 5-14717114-T-C
gnomAD v3: 5-14717005-T-C
gnomAD v4: 5-14717005-T-C
MyVariant Identifiers: chr5:g.14717114T>C (hg19) chr5:g.14717005T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14717005T>C , CM000667.2:g.14717005T>C GRCh38
NC_000005.9:g.14717114T>C , CM000667.1:g.14717114T>C GRCh37
NC_000005.8:g.14770114T>C NCBI36
NG_008273.1:g.159774A>G
NG_008273.2:g.159781A>G
NG_051625.1:g.61212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.1012-170A>G MANE Select ENSP00000284268.6:n.1012-170A>G
ENST00000284268.6:c.1012-170A>G ENSP00000284268.6:n.1012-170A>G
ENST00000502585.1:n.84A>G
NM_054027.4:c.1012-170A>G NP_473368.1:n.1012-170A>G
NM_054027.5:c.1012-170A>G NP_473368.1:n.1012-170A>G
XM_017009644.2:c.928-170A>G XP_016865133.1:n.928-170A>G
NM_054027.6:c.1012-170A>G MANE Select NP_473368.1:n.1012-170A>G
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