Canonical Allele Identifier: CA671745566
Community Standard Title: NM_003002.4(SDHD):c.53-7T>C
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112087850T>C , CM000673.2:g.112087850T>C GRCh38
NC_000011.9:g.111958574T>C , CM000673.1:g.111958574T>C GRCh37
NC_000011.8:g.111463784T>C NCBI36
NG_012337.2:g.6004T>C
NG_033145.1:g.3949A>G
NG_012337.3:g.6004T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003002.4:c.53-7T>C MANE Select NP_002993.1:n.53-7T>C
ENST00000375549.8:c.53-7T>C MANE Select ENSP00000364699.3:n.53-7T>C
NM_001276503.1:c.53-7T>C NP_001263432.1:n.53-7T>C
NM_001276503.2:c.53-7T>C NP_001263432.1:n.53-7T>C
NM_001276504.1:c.52+891T>C NP_001263433.1:n.52+891T>C
NM_001276504.2:c.52+891T>C NP_001263433.1:n.52+891T>C
NM_001276506.1:c.53-7T>C NP_001263435.1:n.53-7T>C
NM_001276506.2:c.53-7T>C NP_001263435.1:n.53-7T>C
NM_003002.3:c.53-7T>C NP_002993.1:n.53-7T>C
NR_077060.1:n.137-7T>C
NR_077060.2:n.88-7T>C
ENST00000375549.7:c.53-7T>C ENSP00000364699.3:n.53-7T>C
ENST00000525291.5:c.52+891T>C ENSP00000436669.1:n.52+891T>C
ENST00000525987.5:n.58-7T>C
ENST00000526592.5:c.53-7T>C ENSP00000432005.1:n.53-7T>C
ENST00000528021.5:c.53-7T>C ENSP00000432465.1:n.53-7T>C
ENST00000528021.6:c.53-7T>C ENSP00000432465.1:n.53-7T>C
ENST00000528048.5:c.53-7T>C ENSP00000436217.1:n.53-7T>C
ENST00000528182.5:c.53-7T>C ENSP00000435475.1:n.53-7T>C
ENST00000530923.5:c.43-7T>C
ENST00000530923.6:c.53-7T>C ENSP00000432946.2:n.53-7T>C
ENST00000531744.5:c.53-7T>C ENSP00000456957.1:n.53-7T>C
ENST00000532699.1:c.53-7T>C ENSP00000456434.1:n.53-7T>C
ENST00000534010.2:c.53-7T>C ENSP00000433202.2:n.53-7T>C
ENST00000614349.4:c.53-7T>C ENSP00000480666.1:n.53-7T>C
ENST00000640554.1:c.53-7T>C ENSP00000491141.1:n.53-7T>C