Canonical Allele Identifier: CA648878054

Gene: HADH

Linked Data

• dbSNP Id: rs1736109455
• gnomAD v4: 4-108027641-T-C
• COSMIC: COSN16130632

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027641T>C , CM000666.2:g.108027641T>C	GRCh38
NC_000004.11:g.108948797T>C , CM000666.1:g.108948797T>C	GRCh37
NC_000004.10:g.109168246T>C	NCBI36
NG_008156.2:g.42858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4800T>C
ENST00000510728.6:n.1578T>C
ENST00000514776.3:n.23T>C
ENST00000515462.7:n.1777T>C
ENST00000626637.2:c.649-47T>C	ENSP00000486771.1:n.649-47T>C
ENST00000638648.2:c.649-47T>C	ENSP00000507949.1:n.649-47T>C
ENST00000640201.2:n.723-47T>C
ENST00000640752.2:n.4800T>C
ENST00000682067.1:c.470-47T>C
ENST00000682086.1:n.659T>C
ENST00000682373.1:c.296-47T>C
ENST00000684696.1:c.637-298T>C	ENSP00000507675.1:n.637-298T>C
ENST00000309522.8:c.637-47T>C MANE Select	ENSP00000312288.4:n.637-47T>C
ENST00000403312.6:c.637-47T>C	ENSP00000385638.3:n.637-47T>C
ENST00000505878.4:c.814-47T>C	ENSP00000425952.2:n.814-47T>C
ENST00000514776.2:n.23T>C
ENST00000515462.6:n.1777T>C
ENST00000638559.1:c.495-47T>C
ENST00000638621.1:c.223-47T>C	ENSP00000491581.1:n.223-47T>C
ENST00000638648.1:n.788-47T>C
ENST00000639146.1:c.637-47T>C	ENSP00000492345.1:n.637-47T>C
ENST00000639335.1:c.*72-47T>C	ENSP00000491310.1:n.*72-47T>C
ENST00000639698.1:c.516+4078T>C	ENSP00000492420.1:n.516+4078T>C
ENST00000639784.1:c.373+4078T>C
ENST00000640048.1:c.609-47T>C	ENSP00000492009.1:n.609-47T>C
ENST00000640060.1:c.*732-47T>C	ENSP00000492734.1:n.*732-47T>C
ENST00000640201.1:n.592-47T>C
ENST00000640752.1:n.4793T>C
ENST00000309522.7:c.637-47T>C	ENSP00000312288.3:n.637-47T>C
ENST00000403312.5:c.814-47T>C	ENSP00000385638.2:n.814-47T>C
ENST00000505878.3:c.649-47T>C	ENSP00000425952.1:n.649-47T>C
ENST00000507260.1:n.337-47T>C
ENST00000510728.5:n.130T>C
ENST00000603302.5:c.637-47T>C	ENSP00000474560.1:n.637-47T>C
ENST00000626637.1:c.649-47T>C	ENSP00000486771.1:n.649-47T>C
NM_001184705.2:c.637-47T>C	NP_001171634.2:n.637-47T>C
NM_005327.4:c.637-47T>C	NP_005318.3:n.637-47T>C
XM_005262972.1:c.649-47T>C	XP_005263029.1:n.649-47T>C
XR_938726.1:n.786-47T>C
NM_001331027.1:c.649-47T>C	NP_001317956.1:n.649-47T>C
XR_001741214.2:n.731-47T>C
XR_002959727.1:n.731-47T>C
NM_001184705.3:c.637-47T>C	NP_001171634.2:n.637-47T>C
NM_005327.7:c.637-47T>C MANE Select	NP_005318.6:n.637-47T>C
NM_001184705.4:c.637-47T>C	NP_001171634.3:n.637-47T>C
NM_001331027.2:c.649-47T>C	NP_001317956.2:n.649-47T>C