Canonical Allele Identifier: CA359245548

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14741947G>T (hg19) ; chr5:g.14741838G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741838G>T , CM000667.2:g.14741838G>T	GRCh38
NC_000005.9:g.14741947G>T , CM000667.1:g.14741947G>T	GRCh37
NC_000005.8:g.14794947G>T	NCBI36
NG_008273.1:g.134941C>A
NG_008273.2:g.134948C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1000C>A MANE Select	ENSP00000284268.6:p.Leu334Met
ENST00000284268.6:c.1000C>A	ENSP00000284268.6:p.Leu334Met
ENST00000503939.5:n.512C>A
ENST00000515517.1:n.234C>A
NM_054027.4:c.1000C>A	NP_473368.1:p.Leu334Met
XM_011514067.1:c.1000C>A	XP_011512369.1:p.Leu334Met
NM_054027.5:c.1000C>A	NP_473368.1:p.Leu334Met
XM_017009644.2:c.916C>A	XP_016865133.1:p.Leu306Met
NM_054027.6:c.1000C>A MANE Select	NP_473368.1:p.Leu334Met