Canonical Allele Identifier: CA116873131

Gene: AMACR C1QTNF3-AMACR

Linked Data

• dbSNP Id: rs941119247
• gnomAD v4: 5-34008074-G-C
• MyVariant Identifiers: chr5:g.34008179G>C (hg19) ; chr5:g.34008074G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34008074G>C , CM000667.2:g.34008074G>C	GRCh38
NC_000005.9:g.34008179G>C , CM000667.1:g.34008179G>C	GRCh37
NC_000005.8:g.34043936G>C	NCBI36
NG_016211.1:g.5042C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.10:c.-55C>G (AMACR)	ENSP00000334424.6:n.-55C>G
ENST00000382079.3:c.690-2175C>G (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-2175C>G
ENST00000426255.6:c.-55C>G (AMACR)	ENSP00000476965.1:n.-55C>G
ENST00000502637.5:c.-55C>G (AMACR)	ENSP00000424351.1:n.-55C>G
NM_001167595.1:c.-55C>G (AMACR)	NP_001161067.1:n.-55C>G
NM_014324.5:c.-55C>G (AMACR)	NP_055139.4:n.-55C>G
NM_203382.2:c.-55C>G (AMACR)	NP_976316.1:n.-55C>G
NR_037951.1:n.765-2175C>G (C1QTNF3-AMACR)