Canonical Allele Identifier: CA359253496

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769198T>C (hg19) ; chr5:g.14769089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769089T>C , CM000667.2:g.14769089T>C	GRCh38
NC_000005.9:g.14769198T>C , CM000667.1:g.14769198T>C	GRCh37
NC_000005.8:g.14822198T>C	NCBI36
NG_008273.1:g.107690A>G
NG_008273.2:g.107697A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.199A>G MANE Select	ENSP00000284268.6:p.Ser67Gly
ENST00000646501.1:c.62A>G
ENST00000284268.6:c.199A>G	ENSP00000284268.6:p.Ser67Gly
ENST00000503389.1:n.205A>G
ENST00000513115.1:n.224A>G
NM_054027.4:c.199A>G	NP_473368.1:p.Ser67Gly
XM_011514067.1:c.199A>G	XP_011512369.1:p.Ser67Gly
NM_054027.5:c.199A>G	NP_473368.1:p.Ser67Gly
XM_017009644.2:c.115A>G	XP_016865133.1:p.Ser39Gly
NM_054027.6:c.199A>G MANE Select	NP_473368.1:p.Ser67Gly