Canonical Allele Identifier: CA359245563

Gene: ANKH

Linked Data

• dbSNP Id: rs1738367938
• gnomAD v3: 5-14741844-T-C
• gnomAD v4: 5-14741844-T-C
• COSMIC: COSM6049928
• MyVariant Identifiers: chr5:g.14741953T>C (hg19) ; chr5:g.14741844T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741844T>C , CM000667.2:g.14741844T>C	GRCh38
NC_000005.9:g.14741953T>C , CM000667.1:g.14741953T>C	GRCh37
NC_000005.8:g.14794953T>C	NCBI36
NG_008273.1:g.134935A>G
NG_008273.2:g.134942A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.994A>G MANE Select	ENSP00000284268.6:p.Met332Val
ENST00000284268.6:c.994A>G	ENSP00000284268.6:p.Met332Val
ENST00000503939.5:n.506A>G
ENST00000515517.1:n.228A>G
NM_054027.4:c.994A>G	NP_473368.1:p.Met332Val
XM_011514067.1:c.994A>G	XP_011512369.1:p.Met332Val
NM_054027.5:c.994A>G	NP_473368.1:p.Met332Val
XM_017009644.2:c.910A>G	XP_016865133.1:p.Met304Val
NM_054027.6:c.994A>G MANE Select	NP_473368.1:p.Met332Val