Canonical Allele Identifier: CA382644906

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399320-G-T
• MyVariant Identifiers: chr11:g.113270042G>T (hg19) ; chr11:g.113399320G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399320G>T , CM000673.2:g.113399320G>T	GRCh38
NC_000011.9:g.113270042G>T , CM000673.1:g.113270042G>T	GRCh37
NC_000011.8:g.112775252G>T	NCBI36
NG_012976.1:g.16530G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1351G>T MANE Select	ENSP00000306678.3:p.Gly451Trp
ENST00000303941.3:c.1351G>T	ENSP00000306678.3:p.Gly451Trp
NM_178510.1:c.1351G>T	NP_848605.1:p.Gly451Trp
XM_011542736.1:c.1384G>T	XP_011541038.1:p.Gly462Trp
XM_011542737.1:c.1354G>T	XP_011541039.1:p.Gly452Trp
XM_011542738.1:c.1162G>T	XP_011541040.1:p.Gly388Trp
XM_011542736.2:c.1384G>T	XP_011541038.1:p.Gly462Trp
XM_011542737.2:c.1354G>T	XP_011541039.1:p.Gly452Trp
XM_011542738.2:c.1162G>T	XP_011541040.1:p.Gly388Trp
XM_017017475.1:c.1381G>T	XP_016872964.1:p.Gly461Trp
NM_178510.2:c.1351G>T MANE Select	NP_848605.1:p.Gly451Trp