Canonical Allele Identifier: CA114727061
Gene: ANKH HGNC NCBI

Linked Data

dbSNP Id: rs1022052149
MyVariant Identifiers: chr5:g.14741872T>C (hg19) chr5:g.14741763T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14741763T>C , CM000667.2:g.14741763T>C GRCh38
NC_000005.9:g.14741872T>C , CM000667.1:g.14741872T>C GRCh37
NC_000005.8:g.14794872T>C NCBI36
NG_008273.1:g.135016A>G
NG_008273.2:g.135023A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000284268.8:c.1011+64A>G MANE Select ENSP00000284268.6:n.1011+64A>G
ENST00000284268.6:c.1011+64A>G ENSP00000284268.6:n.1011+64A>G
ENST00000503939.5:n.523+64A>G
ENST00000515517.1:n.309A>G
NM_054027.4:c.1011+64A>G NP_473368.1:n.1011+64A>G
XM_011514067.1:c.1011+64A>G XP_011512369.1:n.1011+64A>G
NM_054027.5:c.1011+64A>G NP_473368.1:n.1011+64A>G
XM_017009644.2:c.927+64A>G XP_016865133.1:n.927+64A>G
NM_054027.6:c.1011+64A>G MANE Select NP_473368.1:n.1011+64A>G
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