Canonical Allele Identifier: CA346359

Gene: GATA5

Linked Data

• ClinVar Variation Id: 180368
• ClinVar RCV Id: RCV000157241 ; RCV001545383
• dbSNP Id: rs145205240
• ExAC: 20:61039927 G / A
• gnomAD v2: 20-61039927-G-A
• gnomAD v3: 20-62464871-G-A
• gnomAD v4: 20-62464871-G-A
• MyVariant Identifiers: chr20:g.61039927G>A (hg19) ; chr20:g.62464871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62464871G>A , CM000682.2:g.62464871G>A	GRCh38
NC_000020.10:g.61039927G>A , CM000682.1:g.61039927G>A	GRCh37
NC_000020.9:g.60473322G>A	NCBI36
NG_046963.1:g.16100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252997.3:c.1159C>T MANE Select	ENSP00000252997.2:p.Arg387Cys
ENST00000252997.2:c.1159C>T	ENSP00000252997.2:p.Arg387Cys
NM_080473.4:c.1159C>T	NP_536721.1:p.Arg387Cys
XM_006723699.2:c.1159C>T	XP_006723762.1:p.Arg387Cys
XM_006723699.3:c.1159C>T	XP_006723762.1:p.Arg387Cys
NM_080473.5:c.1159C>T MANE Select	NP_536721.1:p.Arg387Cys