Canonical Allele Identifier: CA359613652

Gene: GDNF

Linked Data

• MyVariant Identifiers: chr5:g.37815757A>C (hg19) ; chr5:g.37815655A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815655A>C , CM000667.2:g.37815655A>C	GRCh38
NC_000005.9:g.37815757A>C , CM000667.1:g.37815757A>C	GRCh37
NC_000005.8:g.37851514A>C	NCBI36
NG_011675.2:g.29026T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.632T>G MANE Select	ENSP00000317145.2:p.Ile211Ser
ENST00000326524.6:c.632T>G	ENSP00000317145.2:p.Ile211Ser
ENST00000344622.8:c.554T>G	ENSP00000339703.4:p.Ile185Ser
ENST00000381826.8:c.605T>G	ENSP00000371248.4:p.Ile202Ser
ENST00000427982.5:c.683T>G	ENSP00000409007.1:p.Ile228Ser
ENST00000515058.5:c.554T>G	ENSP00000425928.1:p.Ile185Ser
ENST00000620847.1:c.476T>G	ENSP00000478722.1:p.Ile159Ser
NM_000514.3:c.632T>G	NP_000505.1:p.Ile211Ser
NM_001190468.1:c.683T>G	NP_001177397.1:p.Ile228Ser
NM_001190469.1:c.605T>G	NP_001177398.1:p.Ile202Ser
NM_001278098.1:c.476T>G	NP_001265027.1:p.Ile159Ser
NM_199231.2:c.554T>G	NP_954701.1:p.Ile185Ser
XM_011514028.1:c.632T>G	XP_011512330.1:p.Ile211Ser
XM_011514029.1:c.632T>G	XP_011512331.1:p.Ile211Ser
XM_011514030.1:c.476T>G	XP_011512332.1:p.Ile159Ser
XM_011514030.3:c.476T>G	XP_011512332.1:p.Ile159Ser
XM_017009337.2:c.554T>G	XP_016864826.1:p.Ile185Ser
NM_000514.4:c.632T>G MANE Select	NP_000505.1:p.Ile211Ser