Canonical Allele Identifier: CA443372226

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14871499G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871390G>A , CM000667.2:g.14871390G>A	GRCh38
NC_000005.9:g.14871499G>A , CM000667.1:g.14871499G>A	GRCh37
NC_000005.8:g.14924499G>A	NCBI36
NG_008273.1:g.5389C>T
NG_008273.2:g.5396C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.58C>T MANE Select	ENSP00000284268.6:p.Leu20=
ENST00000284268.6:c.58C>T	ENSP00000284268.6:p.Leu20=
ENST00000505140.1:c.58C>T	ENSP00000426332.1:p.Leu20=
ENST00000513115.1:n.83C>T
NM_054027.4:c.58C>T	NP_473368.1:p.Leu20=
XM_011514067.1:c.58C>T	XP_011512369.1:p.Leu20=
NM_054027.5:c.58C>T	NP_473368.1:p.Leu20=
NM_054027.6:c.58C>T MANE Select	NP_473368.1:p.Leu20=