Canonical Allele Identifier: CA359253828

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769256C>G (hg19) ; chr5:g.14769147C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769147C>G , CM000667.2:g.14769147C>G	GRCh38
NC_000005.9:g.14769256C>G , CM000667.1:g.14769256C>G	GRCh37
NC_000005.8:g.14822256C>G	NCBI36
NG_008273.1:g.107632G>C
NG_008273.2:g.107639G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.141G>C MANE Select	ENSP00000284268.6:p.Glu47Asp
ENST00000646501.1:c.4G>C
ENST00000284268.6:c.141G>C	ENSP00000284268.6:p.Glu47Asp
ENST00000503389.1:n.147G>C
ENST00000513115.1:n.166G>C
NM_054027.4:c.141G>C	NP_473368.1:p.Glu47Asp
XM_011514067.1:c.141G>C	XP_011512369.1:p.Glu47Asp
NM_054027.5:c.141G>C	NP_473368.1:p.Glu47Asp
XM_017009644.2:c.57G>C	XP_016865133.1:p.Glu19Asp
NM_054027.6:c.141G>C MANE Select	NP_473368.1:p.Glu47Asp