Canonical Allele Identifier: CA477042513

Gene: ANKK1

Linked Data

• dbSNP Id: rs1950669222
• gnomAD v4: 11-113399313-G-T
• MyVariant Identifiers: chr11:g.113270035G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399313G>T , CM000673.2:g.113399313G>T	GRCh38
NC_000011.9:g.113270035G>T , CM000673.1:g.113270035G>T	GRCh37
NC_000011.8:g.112775245G>T	NCBI36
NG_012976.1:g.16523G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1344G>T MANE Select	ENSP00000306678.3:p.Leu448=
ENST00000303941.3:c.1344G>T	ENSP00000306678.3:p.Leu448=
NM_178510.1:c.1344G>T	NP_848605.1:p.Leu448=
XM_011542736.1:c.1377G>T	XP_011541038.1:p.Leu459=
XM_011542737.1:c.1347G>T	XP_011541039.1:p.Leu449=
XM_011542738.1:c.1155G>T	XP_011541040.1:p.Leu385=
XM_011542736.2:c.1377G>T	XP_011541038.1:p.Leu459=
XM_011542737.2:c.1347G>T	XP_011541039.1:p.Leu449=
XM_011542738.2:c.1155G>T	XP_011541040.1:p.Leu385=
XM_017017475.1:c.1374G>T	XP_016872964.1:p.Leu458=
NM_178510.2:c.1344G>T MANE Select	NP_848605.1:p.Leu448=