Canonical Allele Identifier: CA342535664

Gene: GATAD2B

Linked Data

• MyVariant Identifiers: chr1:g.153792168C>A (hg19) ; chr1:g.153819692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153819692C>A , CM000663.2:g.153819692C>A	GRCh38
NC_000001.10:g.153792168C>A , CM000663.1:g.153792168C>A	GRCh37
NC_000001.9:g.152058792C>A	NCBI36
NG_050988.1:g.108284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703630.1:c.-45G>T	ENSP00000515408.1:n.-45G>T
ENST00000368655.5:c.379G>T MANE Select	ENSP00000357644.4:p.Val127Phe
ENST00000638051.1:n.97G>T
ENST00000368655.4:c.379G>T	ENSP00000357644.4:p.Val127Phe
ENST00000634401.1:c.379G>T	ENSP00000489313.1:p.Val127Phe
ENST00000634408.1:c.379G>T	ENSP00000489595.1:p.Val127Phe
ENST00000634544.1:c.379G>T	ENSP00000489184.1:p.Val127Phe
ENST00000634791.1:c.379G>T	ENSP00000489566.1:p.Val127Phe
NM_020699.2:c.379G>T	NP_065750.1:p.Val127Phe
XM_005245364.3:c.379G>T	XP_005245421.1:p.Val127Phe
XM_006711469.2:c.379G>T	XP_006711532.1:p.Val127Phe
XM_011509808.1:c.379G>T	XP_011508110.1:p.Val127Phe
NM_020699.3:c.379G>T	NP_065750.1:p.Val127Phe
XM_005245364.4:c.379G>T	XP_005245421.1:p.Val127Phe
XM_024448621.1:c.379G>T	XP_024304389.1:p.Val127Phe
NM_020699.4:c.379G>T MANE Select	NP_065750.1:p.Val127Phe