Canonical Allele Identifier: CA382616935
Community Standard Title: NM_003002.4(SDHD):c.70C>T (p.Pro24Ser)
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112087874C>T , CM000673.2:g.112087874C>T GRCh38
NC_000011.9:g.111958598C>T , CM000673.1:g.111958598C>T GRCh37
NC_000011.8:g.111463808C>T NCBI36
NG_012337.2:g.6028C>T
NG_033145.1:g.3925G>A
NG_012337.3:g.6028C>T

Transcript Alleles

HGVS Amino-acid Change
NM_003002.4:c.70C>T MANE Select NP_002993.1:p.Pro24Ser
ENST00000375549.8:c.70C>T MANE Select ENSP00000364699.3:p.Pro24Ser
NM_001276503.1:c.70C>T NP_001263432.1:p.Pro24Ser
NM_001276503.2:c.70C>T NP_001263432.1:p.Pro24Ser
NM_001276504.1:c.52+915C>T NP_001263433.1:n.52+915C>T
NM_001276504.2:c.52+915C>T NP_001263433.1:n.52+915C>T
NM_001276506.1:c.70C>T NP_001263435.1:p.Pro24Ser
NM_001276506.2:c.70C>T NP_001263435.1:p.Pro24Ser
NM_003002.3:c.70C>T NP_002993.1:p.Pro24Ser
NR_077060.1:n.154C>T
NR_077060.2:n.105C>T
ENST00000375549.7:c.70C>T ENSP00000364699.3:p.Pro24Ser
ENST00000525291.5:c.52+915C>T ENSP00000436669.1:n.52+915C>T
ENST00000525987.5:n.75C>T
ENST00000526592.5:c.70C>T ENSP00000432005.1:p.Pro24Ser
ENST00000528021.5:c.70C>T ENSP00000432465.1:p.Pro24Ser
ENST00000528021.6:c.70C>T ENSP00000432465.1:p.Pro24Ser
ENST00000528048.5:c.70C>T ENSP00000436217.1:p.Pro24Ser
ENST00000528182.5:c.70C>T ENSP00000435475.1:p.Pro24Ser
ENST00000530923.5:c.60C>T
ENST00000530923.6:c.70C>T ENSP00000432946.2:p.Pro24Ser
ENST00000531744.5:c.70C>T ENSP00000456957.1:p.Pro24Ser
ENST00000532699.1:c.70C>T ENSP00000456434.1:p.Pro24Ser
ENST00000534010.2:c.70C>T ENSP00000433202.2:p.Pro24Ser
ENST00000614349.4:c.70C>T ENSP00000480666.1:p.Pro24Ser
ENST00000640554.1:c.70C>T ENSP00000491141.1:p.Pro24Ser