Canonical Allele Identifier: CA114749339

Gene: ANKH

Linked Data

• dbSNP Id: rs766078269
• MyVariant Identifiers: chr5:g.14769260A>G (hg19) ; chr5:g.14769151A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769151A>G , CM000667.2:g.14769151A>G	GRCh38
NC_000005.9:g.14769260A>G , CM000667.1:g.14769260A>G	GRCh37
NC_000005.8:g.14822260A>G	NCBI36
NG_008273.1:g.107628T>C
NG_008273.2:g.107635T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.137T>C MANE Select	ENSP00000284268.6:p.Val46Ala
ENST00000284268.6:c.137T>C	ENSP00000284268.6:p.Val46Ala
ENST00000503389.1:n.143T>C
ENST00000513115.1:n.162T>C
NM_054027.4:c.137T>C	NP_473368.1:p.Val46Ala
XM_011514067.1:c.137T>C	XP_011512369.1:p.Val46Ala
NM_054027.5:c.137T>C	NP_473368.1:p.Val46Ala
XM_017009644.2:c.53T>C	XP_016865133.1:p.Val18Ala
NM_054027.6:c.137T>C MANE Select	NP_473368.1:p.Val46Ala