Canonical Allele Identifier: CA359245491

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716934A>G (hg19) ; chr5:g.14716825A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716825A>G , CM000667.2:g.14716825A>G	GRCh38
NC_000005.9:g.14716934A>G , CM000667.1:g.14716934A>G	GRCh37
NC_000005.8:g.14769934A>G	NCBI36
NG_008273.1:g.159954T>C
NG_008273.2:g.159961T>C
NG_051625.1:g.61032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1022T>C MANE Select	ENSP00000284268.6:p.Val341Ala
ENST00000284268.6:c.1022T>C	ENSP00000284268.6:p.Val341Ala
ENST00000502585.1:n.264T>C
NM_054027.4:c.1022T>C	NP_473368.1:p.Val341Ala
NM_054027.5:c.1022T>C	NP_473368.1:p.Val341Ala
XM_017009644.2:c.938T>C	XP_016865133.1:p.Val313Ala
NM_054027.6:c.1022T>C MANE Select	NP_473368.1:p.Val341Ala