Canonical Allele Identifier: CA339025466

Gene: HMGCL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23810796G>T , CM000663.2:g.23810796G>T	GRCh38
NC_000001.10:g.24137286G>T , CM000663.1:g.24137286G>T	GRCh37
NC_000001.9:g.24009873G>T	NCBI36
NG_013061.1:g.19664C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374490.8:c.501C>A MANE Select	ENSP00000363614.3:p.Tyr167Ter
ENST00000235958.4:c.132-2473C>A
ENST00000374487.6:c.*542C>A	ENSP00000363611.2:n.*542C>A
ENST00000374490.7:c.501C>A	ENSP00000363614.3:p.Tyr167Ter
ENST00000436439.6:c.349-2473C>A	ENSP00000389281.2:n.349-2473C>A
ENST00000496907.1:n.136C>A
ENST00000509389.5:n.361-2581C>A
ENST00000513148.1:n.502C>A
NM_000191.2:c.501C>A	NP_000182.2:p.Tyr167Ter
NM_001166059.1:c.349-2473C>A	NP_001159531.1:n.349-2473C>A
NM_000191.3:c.501C>A MANE Select	NP_000182.2:p.Tyr167Ter
NM_001166059.2:c.349-2473C>A	NP_001159531.1:n.349-2473C>A