Canonical Allele Identifier: CA443281645

Gene: ANKH

Linked Data

• dbSNP Id: rs1383282106
• MyVariant Identifiers: chr5:g.14741948A>G (hg19) ; chr5:g.14741839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741839A>G , CM000667.2:g.14741839A>G	GRCh38
NC_000005.9:g.14741948A>G , CM000667.1:g.14741948A>G	GRCh37
NC_000005.8:g.14794948A>G	NCBI36
NG_008273.1:g.134940T>C
NG_008273.2:g.134947T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.999T>C MANE Select	ENSP00000284268.6:p.Ala333=
ENST00000284268.6:c.999T>C	ENSP00000284268.6:p.Ala333=
ENST00000503939.5:n.511T>C
ENST00000515517.1:n.233T>C
NM_054027.4:c.999T>C	NP_473368.1:p.Ala333=
XM_011514067.1:c.999T>C	XP_011512369.1:p.Ala333=
NM_054027.5:c.999T>C	NP_473368.1:p.Ala333=
XM_017009644.2:c.915T>C	XP_016865133.1:p.Ala305=
NM_054027.6:c.999T>C MANE Select	NP_473368.1:p.Ala333=