Canonical Allele Identifier: CA394304735

Gene: GFER

Linked Data

• MyVariant Identifiers: chr16:g.2036012G>T (hg19) ; chr16:g.1986011G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1986011G>T , CM000678.2:g.1986011G>T	GRCh38
NC_000016.9:g.2036012G>T , CM000678.1:g.2036012G>T	GRCh37
NC_000016.8:g.1976013G>T	NCBI36
NG_016288.1:g.6863G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.376G>T	ENSP00000455885.1:p.Asp126Tyr
ENST00000248114.7:c.601G>T MANE Select	ENSP00000248114.6:p.Asp201Tyr
ENST00000248114.6:c.601G>T	ENSP00000248114.6:p.Asp201Tyr
ENST00000565658.1:n.758G>T
ENST00000567719.1:c.376G>T	ENSP00000455885.1:p.Asp126Tyr
ENST00000569451.1:c.*74G>T	ENSP00000456432.1:n.*74G>T
NM_005262.2:c.601G>T	NP_005253.3:p.Asp201Tyr
NM_005262.3:c.601G>T MANE Select	NP_005253.3:p.Asp201Tyr