Canonical Allele Identifier: CA382616904
Community Standard Title: NM_003002.4(SDHD):c.53-1G>T
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112087856G>T , CM000673.2:g.112087856G>T GRCh38
NC_000011.9:g.111958580G>T , CM000673.1:g.111958580G>T GRCh37
NC_000011.8:g.111463790G>T NCBI36
NG_012337.2:g.6010G>T
NG_033145.1:g.3943C>A
NG_012337.3:g.6010G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003002.4:c.53-1G>T MANE Select NP_002993.1:n.53-1G>T
ENST00000375549.8:c.53-1G>T MANE Select ENSP00000364699.3:n.53-1G>T
NM_001276503.1:c.53-1G>T NP_001263432.1:n.53-1G>T
NM_001276503.2:c.53-1G>T NP_001263432.1:n.53-1G>T
NM_001276504.1:c.52+897G>T NP_001263433.1:n.52+897G>T
NM_001276504.2:c.52+897G>T NP_001263433.1:n.52+897G>T
NM_001276506.1:c.53-1G>T NP_001263435.1:n.53-1G>T
NM_001276506.2:c.53-1G>T NP_001263435.1:n.53-1G>T
NM_003002.3:c.53-1G>T NP_002993.1:n.53-1G>T
NR_077060.1:n.137-1G>T
NR_077060.2:n.88-1G>T
ENST00000375549.7:c.53-1G>T ENSP00000364699.3:n.53-1G>T
ENST00000525291.5:c.52+897G>T ENSP00000436669.1:n.52+897G>T
ENST00000525987.5:n.58-1G>T
ENST00000526592.5:c.53-1G>T ENSP00000432005.1:n.53-1G>T
ENST00000528021.5:c.53-1G>T ENSP00000432465.1:n.53-1G>T
ENST00000528021.6:c.53-1G>T ENSP00000432465.1:n.53-1G>T
ENST00000528048.5:c.53-1G>T ENSP00000436217.1:n.53-1G>T
ENST00000528182.5:c.53-1G>T ENSP00000435475.1:n.53-1G>T
ENST00000530923.5:c.43-1G>T
ENST00000530923.6:c.53-1G>T ENSP00000432946.2:n.53-1G>T
ENST00000531744.5:c.53-1G>T ENSP00000456957.1:n.53-1G>T
ENST00000532699.1:c.53-1G>T ENSP00000456434.1:n.53-1G>T
ENST00000534010.2:c.53-1G>T ENSP00000433202.2:n.53-1G>T
ENST00000614349.4:c.53-1G>T ENSP00000480666.1:n.53-1G>T
ENST00000640554.1:c.53-1G>T ENSP00000491141.1:n.53-1G>T