Canonical Allele Identifier: CA412054275

Gene: HCCS

Linked Data

• ClinVar Variation Id: 545079
• ClinVar RCV Id: RCV000656298
• dbSNP Id: rs1555955059
• MyVariant Identifiers: chrX:g.11133015C>T (hg19) ; chrX:g.11114895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.11114895C>T , CM000685.2:g.11114895C>T	GRCh38
NC_000023.10:g.11133015C>T , CM000685.1:g.11133015C>T	GRCh37
NC_000023.9:g.11042936C>T	NCBI36
NG_016460.1:g.8601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380762.5:c.161C>T MANE Select	ENSP00000370139.4:p.Pro54Leu
ENST00000321143.8:c.161C>T	ENSP00000326579.4:p.Pro54Leu
ENST00000380762.4:c.161C>T	ENSP00000370139.4:p.Pro54Leu
ENST00000380763.7:c.161C>T	ENSP00000370140.3:p.Pro54Leu
NM_001122608.2:c.161C>T	NP_001116080.1:p.Pro54Leu
NM_001171991.2:c.161C>T	NP_001165462.1:p.Pro54Leu
NM_005333.4:c.161C>T	NP_005324.3:p.Pro54Leu
XM_024452368.1:c.221C>T	XP_024308136.1:p.Pro74Leu
NM_005333.5:c.161C>T MANE Select	NP_005324.3:p.Pro54Leu
NM_001122608.3:c.161C>T	NP_001116080.1:p.Pro54Leu
NM_001171991.3:c.161C>T	NP_001165462.1:p.Pro54Leu