Canonical Allele Identifier: CA805346451
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs777859536
gnomAD v3: 5-14769212-C-T
gnomAD v4: 5-14769212-C-T
MyVariant Identifiers: chr5:g.14769321C>T (hg19) chr5:g.14769212C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14769212C>T , CM000667.2:g.14769212C>T GRCh38
NC_000005.9:g.14769321C>T , CM000667.1:g.14769321C>T GRCh37
NC_000005.8:g.14822321C>T NCBI36
NG_008273.1:g.107567G>A
NG_008273.2:g.107574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284268.8:c.97-21G>A MANE Select ENSP00000284268.6:n.97-21G>A
ENST00000284268.6:c.97-21G>A ENSP00000284268.6:n.97-21G>A
ENST00000503389.1:n.103-21G>A
ENST00000513115.1:n.122-21G>A
NM_054027.4:c.97-21G>A NP_473368.1:n.97-21G>A
XM_011514067.1:c.97-21G>A XP_011512369.1:n.97-21G>A
NM_054027.5:c.97-21G>A NP_473368.1:n.97-21G>A
XM_017009644.2:c.13-21G>A XP_016865133.1:n.13-21G>A
NM_054027.6:c.97-21G>A MANE Select NP_473368.1:n.97-21G>A
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