Canonical Allele Identifier: CA443281639

Gene: ANKH

Linked Data

• gnomAD v4: 5-14741838-G-A
• MyVariant Identifiers: chr5:g.14741947G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.1000C>T MANE Select	ENSP00000284268.6:p.Leu334=
ENST00000284268.6:c.1000C>T	ENSP00000284268.6:p.Leu334=
ENST00000503939.5:n.512C>T
ENST00000515517.1:n.234C>T
NM_054027.4:c.1000C>T	NP_473368.1:p.Leu334=
XM_011514067.1:c.1000C>T	XP_011512369.1:p.Leu334=
NM_054027.5:c.1000C>T	NP_473368.1:p.Leu334=
XM_017009644.2:c.916C>T	XP_016865133.1:p.Leu306=
NM_054027.6:c.1000C>T MANE Select	NP_473368.1:p.Leu334=