Canonical Allele Identifier: CA557881622

Gene: ANKH

Linked Data

• dbSNP Id: rs1411986374
• gnomAD v2: 5-14741870-A-G
• gnomAD v3: 5-14741761-A-G
• gnomAD v4: 5-14741761-A-G
• MyVariant Identifiers: chr5:g.14741870A>G (hg19) ; chr5:g.14741761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741761A>G , CM000667.2:g.14741761A>G	GRCh38
NC_000005.9:g.14741870A>G , CM000667.1:g.14741870A>G	GRCh37
NC_000005.8:g.14794870A>G	NCBI36
NG_008273.1:g.135018T>C
NG_008273.2:g.135025T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1011+66T>C MANE Select	ENSP00000284268.6:n.1011+66T>C
ENST00000284268.6:c.1011+66T>C	ENSP00000284268.6:n.1011+66T>C
ENST00000503939.5:n.523+66T>C
ENST00000515517.1:n.311T>C
NM_054027.4:c.1011+66T>C	NP_473368.1:n.1011+66T>C
XM_011514067.1:c.1011+66T>C	XP_011512369.1:n.1011+66T>C
NM_054027.5:c.1011+66T>C	NP_473368.1:n.1011+66T>C
XM_017009644.2:c.927+66T>C	XP_016865133.1:n.927+66T>C
NM_054027.6:c.1011+66T>C MANE Select	NP_473368.1:n.1011+66T>C