Canonical Allele Identifier: CA359613657

Gene: GDNF

Linked Data

• MyVariant Identifiers: chr5:g.37815758T>G (hg19) ; chr5:g.37815656T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37815656T>G , CM000667.2:g.37815656T>G	GRCh38
NC_000005.9:g.37815758T>G , CM000667.1:g.37815758T>G	GRCh37
NC_000005.8:g.37851515T>G	NCBI36
NG_011675.2:g.29025A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326524.7:c.631A>C MANE Select	ENSP00000317145.2:p.Ile211Leu
ENST00000326524.6:c.631A>C	ENSP00000317145.2:p.Ile211Leu
ENST00000344622.8:c.553A>C	ENSP00000339703.4:p.Ile185Leu
ENST00000381826.8:c.604A>C	ENSP00000371248.4:p.Ile202Leu
ENST00000427982.5:c.682A>C	ENSP00000409007.1:p.Ile228Leu
ENST00000515058.5:c.553A>C	ENSP00000425928.1:p.Ile185Leu
ENST00000620847.1:c.475A>C	ENSP00000478722.1:p.Ile159Leu
NM_000514.3:c.631A>C	NP_000505.1:p.Ile211Leu
NM_001190468.1:c.682A>C	NP_001177397.1:p.Ile228Leu
NM_001190469.1:c.604A>C	NP_001177398.1:p.Ile202Leu
NM_001278098.1:c.475A>C	NP_001265027.1:p.Ile159Leu
NM_199231.2:c.553A>C	NP_954701.1:p.Ile185Leu
XM_011514028.1:c.631A>C	XP_011512330.1:p.Ile211Leu
XM_011514029.1:c.631A>C	XP_011512331.1:p.Ile211Leu
XM_011514030.1:c.475A>C	XP_011512332.1:p.Ile159Leu
XM_011514030.3:c.475A>C	XP_011512332.1:p.Ile159Leu
XM_017009337.2:c.553A>C	XP_016864826.1:p.Ile185Leu
NM_000514.4:c.631A>C MANE Select	NP_000505.1:p.Ile211Leu