Canonical Allele Identifier: CA359286076

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14871505C>T (hg19) ; chr5:g.14871396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871396C>T , CM000667.2:g.14871396C>T	GRCh38
NC_000005.9:g.14871505C>T , CM000667.1:g.14871505C>T	GRCh37
NC_000005.8:g.14924505C>T	NCBI36
NG_008273.1:g.5383G>A
NG_008273.2:g.5390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.52G>A MANE Select	ENSP00000284268.6:p.Val18Met
ENST00000284268.6:c.52G>A	ENSP00000284268.6:p.Val18Met
ENST00000505140.1:c.52G>A	ENSP00000426332.1:p.Val18Met
ENST00000513115.1:n.77G>A
NM_054027.4:c.52G>A	NP_473368.1:p.Val18Met
XM_011514067.1:c.52G>A	XP_011512369.1:p.Val18Met
NM_054027.5:c.52G>A	NP_473368.1:p.Val18Met
NM_054027.6:c.52G>A MANE Select	NP_473368.1:p.Val18Met