Canonical Allele Identifier: CA359286154

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14871544G>C (hg19) ; chr5:g.14871435G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871435G>C , CM000667.2:g.14871435G>C	GRCh38
NC_000005.9:g.14871544G>C , CM000667.1:g.14871544G>C	GRCh37
NC_000005.8:g.14924544G>C	NCBI36
NG_008273.1:g.5344C>G
NG_008273.2:g.5351C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.13C>G MANE Select	ENSP00000284268.6:p.Pro5Ala
ENST00000284268.6:c.13C>G	ENSP00000284268.6:p.Pro5Ala
ENST00000505140.1:c.13C>G	ENSP00000426332.1:p.Pro5Ala
ENST00000513115.1:n.38C>G
NM_054027.4:c.13C>G	NP_473368.1:p.Pro5Ala
XM_011514067.1:c.13C>G	XP_011512369.1:p.Pro5Ala
NM_054027.5:c.13C>G	NP_473368.1:p.Pro5Ala
NM_054027.6:c.13C>G MANE Select	NP_473368.1:p.Pro5Ala