Canonical Allele Identifier: CA359245547

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14741946A>T (hg19) ; chr5:g.14741837A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741837A>T , CM000667.2:g.14741837A>T	GRCh38
NC_000005.9:g.14741946A>T , CM000667.1:g.14741946A>T	GRCh37
NC_000005.8:g.14794946A>T	NCBI36
NG_008273.1:g.134942T>A
NG_008273.2:g.134949T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1001T>A MANE Select	ENSP00000284268.6:p.Leu334Gln
ENST00000284268.6:c.1001T>A	ENSP00000284268.6:p.Leu334Gln
ENST00000503939.5:n.513T>A
ENST00000515517.1:n.235T>A
NM_054027.4:c.1001T>A	NP_473368.1:p.Leu334Gln
XM_011514067.1:c.1001T>A	XP_011512369.1:p.Leu334Gln
NM_054027.5:c.1001T>A	NP_473368.1:p.Leu334Gln
XM_017009644.2:c.917T>A	XP_016865133.1:p.Leu306Gln
NM_054027.6:c.1001T>A MANE Select	NP_473368.1:p.Leu334Gln