Canonical Allele Identifier: CA359245420

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14716902T>G (hg19) ; chr5:g.14716793T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716793T>G , CM000667.2:g.14716793T>G	GRCh38
NC_000005.9:g.14716902T>G , CM000667.1:g.14716902T>G	GRCh37
NC_000005.8:g.14769902T>G	NCBI36
NG_008273.1:g.159986A>C
NG_008273.2:g.159993A>C
NG_051625.1:g.61000T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1054A>C MANE Select	ENSP00000284268.6:p.Ile352Leu
ENST00000284268.6:c.1054A>C	ENSP00000284268.6:p.Ile352Leu
ENST00000502585.1:n.296A>C
NM_054027.4:c.1054A>C	NP_473368.1:p.Ile352Leu
NM_054027.5:c.1054A>C	NP_473368.1:p.Ile352Leu
XM_017009644.2:c.970A>C	XP_016865133.1:p.Ile324Leu
NM_054027.6:c.1054A>C MANE Select	NP_473368.1:p.Ile352Leu