Canonical Allele Identifier: CA359253880

Gene: ANKH

Linked Data

• dbSNP Id: rs1243060720
• COSMIC: COSM6170085
• MyVariant Identifiers: chr5:g.14769270C>G (hg19) ; chr5:g.14769161C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769161C>G , CM000667.2:g.14769161C>G	GRCh38
NC_000005.9:g.14769270C>G , CM000667.1:g.14769270C>G	GRCh37
NC_000005.8:g.14822270C>G	NCBI36
NG_008273.1:g.107618G>C
NG_008273.2:g.107625G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.127G>C MANE Select	ENSP00000284268.6:p.Glu43Gln
ENST00000284268.6:c.127G>C	ENSP00000284268.6:p.Glu43Gln
ENST00000503389.1:n.133G>C
ENST00000513115.1:n.152G>C
NM_054027.4:c.127G>C	NP_473368.1:p.Glu43Gln
XM_011514067.1:c.127G>C	XP_011512369.1:p.Glu43Gln
NM_054027.5:c.127G>C	NP_473368.1:p.Glu43Gln
XM_017009644.2:c.43G>C	XP_016865133.1:p.Glu15Gln
NM_054027.6:c.127G>C MANE Select	NP_473368.1:p.Glu43Gln