Canonical Allele Identifier: CA359245567

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14741955C>G (hg19) ; chr5:g.14741846C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741846C>G , CM000667.2:g.14741846C>G	GRCh38
NC_000005.9:g.14741955C>G , CM000667.1:g.14741955C>G	GRCh37
NC_000005.8:g.14794955C>G	NCBI36
NG_008273.1:g.134933G>C
NG_008273.2:g.134940G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.992G>C MANE Select	ENSP00000284268.6:p.Cys331Ser
ENST00000284268.6:c.992G>C	ENSP00000284268.6:p.Cys331Ser
ENST00000503939.5:n.504G>C
ENST00000515517.1:n.226G>C
NM_054027.4:c.992G>C	NP_473368.1:p.Cys331Ser
XM_011514067.1:c.992G>C	XP_011512369.1:p.Cys331Ser
NM_054027.5:c.992G>C	NP_473368.1:p.Cys331Ser
XM_017009644.2:c.908G>C	XP_016865133.1:p.Cys303Ser
NM_054027.6:c.992G>C MANE Select	NP_473368.1:p.Cys331Ser