Canonical Allele Identifier: CA558971216

Gene: AMACR C1QTNF3-AMACR

Linked Data

• dbSNP Id: rs1426316630
• gnomAD v2: 5-34008144-C-T
• MyVariant Identifiers: chr5:g.34008144C>T (hg19) ; chr5:g.34008039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.34008039C>T , CM000667.2:g.34008039C>T	GRCh38
NC_000005.9:g.34008144C>T , CM000667.1:g.34008144C>T	GRCh37
NC_000005.8:g.34043901C>T	NCBI36
NG_016211.1:g.5077G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335606.11:c.-20G>A (AMACR) MANE Select	ENSP00000334424.6:n.-20G>A
ENST00000335606.10:c.-20G>A (AMACR)	ENSP00000334424.6:n.-20G>A
ENST00000382079.3:c.690-2140G>A (C1QTNF3-AMACR)	ENSP00000371511.3:n.690-2140G>A
ENST00000426255.6:c.-20G>A (AMACR)	ENSP00000476965.1:n.-20G>A
ENST00000502637.5:c.-20G>A (AMACR)	ENSP00000424351.1:n.-20G>A
NM_001167595.1:c.-20G>A (AMACR)	NP_001161067.1:n.-20G>A
NM_014324.5:c.-20G>A (AMACR)	NP_055139.4:n.-20G>A
NM_203382.2:c.-20G>A (AMACR)	NP_976316.1:n.-20G>A
NR_037951.1:n.765-2140G>A (C1QTNF3-AMACR)
NM_014324.6:c.-20G>A (AMACR) MANE Select	NP_055139.4:n.-20G>A
NM_001167595.2:c.-20G>A (AMACR)	NP_001161067.1:n.-20G>A
NM_203382.3:c.-20G>A (AMACR)	NP_976316.1:n.-20G>A