Canonical Allele Identifier: CA359286061

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14871498A>G (hg19) ; chr5:g.14871389A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871389A>G , CM000667.2:g.14871389A>G	GRCh38
NC_000005.9:g.14871498A>G , CM000667.1:g.14871498A>G	GRCh37
NC_000005.8:g.14924498A>G	NCBI36
NG_008273.1:g.5390T>C
NG_008273.2:g.5397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.59T>C MANE Select	ENSP00000284268.6:p.Leu20Pro
ENST00000284268.6:c.59T>C	ENSP00000284268.6:p.Leu20Pro
ENST00000505140.1:c.59T>C	ENSP00000426332.1:p.Leu20Pro
ENST00000513115.1:n.84T>C
NM_054027.4:c.59T>C	NP_473368.1:p.Leu20Pro
XM_011514067.1:c.59T>C	XP_011512369.1:p.Leu20Pro
NM_054027.5:c.59T>C	NP_473368.1:p.Leu20Pro
NM_054027.6:c.59T>C MANE Select	NP_473368.1:p.Leu20Pro