Canonical Allele Identifier: CA358355717

Gene: MMAA

Linked Data

• ClinVar Variation Id: 2759861
• ClinVar RCV Id: RCV003500211
• gnomAD v4: 4-145646022-T-C
• MyVariant Identifiers: chr4:g.146567174T>C (hg19) ; chr4:g.145646022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145646022T>C , CM000666.2:g.145646022T>C	GRCh38
NC_000004.11:g.146567174T>C , CM000666.1:g.146567174T>C	GRCh37
NC_000004.10:g.146786624T>C	NCBI36
NG_007536.1:g.31725T>C
NG_007536.2:g.51981T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.599T>C	ENSP00000442284.3:p.Leu200Ser
ENST00000647947.1:c.*383T>C	ENSP00000496781.1:n.*383T>C
ENST00000648388.1:c.599T>C	ENSP00000497046.1:p.Leu200Ser
ENST00000649156.2:c.599T>C MANE Select	ENSP00000497008.1:p.Leu200Ser
ENST00000649173.1:c.599T>C	ENSP00000497871.1:p.Leu200Ser
ENST00000649704.1:c.599T>C	ENSP00000497680.1:p.Leu200Ser
ENST00000679563.1:c.599T>C	ENSP00000506503.1:p.Leu200Ser
ENST00000679930.1:c.*118T>C	ENSP00000506293.1:n.*118T>C
ENST00000281317.9:c.599T>C	ENSP00000281317.5:p.Leu200Ser
ENST00000506919.1:n.1087T>C
ENST00000511969.4:c.599T>C	ENSP00000427422.1:p.Leu200Ser
ENST00000541599.4:c.599T>C	ENSP00000442284.2:p.Leu200Ser
NM_172250.2:c.599T>C	NP_758454.1:p.Leu200Ser
XM_011531684.1:c.599T>C	XP_011529986.1:p.Leu200Ser
XM_011531685.1:c.599T>C	XP_011529987.1:p.Leu200Ser
XM_011531686.1:c.104T>C	XP_011529988.1:p.Leu35Ser
NM_172250.3:c.599T>C MANE Select	NP_758454.1:p.Leu200Ser
XM_011531684.3:c.599T>C	XP_011529986.1:p.Leu200Ser
XM_011531685.2:c.599T>C	XP_011529987.1:p.Leu200Ser
XM_011531686.2:c.104T>C	XP_011529988.1:p.Leu35Ser
NM_001375644.1:c.599T>C	NP_001362573.1:p.Leu200Ser